bluuebunny/crossref_metadata_2025 huggingface dataset:
Blood‐group gene localization through a study of mongolism
Authors: EVANS D. A. PRICE , DONOHOE W. T. A. , BANNERMAN R. M. , MOHN J. F. , LAMBERT R. M.
Published: September 2007

Eighty‐two mongol‐sib pairs and their parents at Liverpool and eighty‐two mongol‐sib pairs at Buffalo, New York, have been investigated. Their blood was examined for A, A, BO, Lewis, MNSs, Rh, P., Duffy and Kell groups in all, and for Lutheran, Kidd, Vw, Mia and DP in addition in the Buffalo series. Their salivas were tested for ABH secretor status. Results have been added to the previous data of Lang‐Brown et al. (1952/63) and show no significant association between blood‐group phenotype and mongolism, except in the cme of Kell, where a significant excess of Kell‐positive mongols is found. The possibility that the Kell locus may therefore be on chromosome 21 is discussed.

No significant difference between mongols and their normal sibs is found in urinary fucose excretion.
Familial Down's syndrome A cytogenetical and genealogical study of twenty‐two families
Authors: MIKKELSEN MARGARETA
Published: September 2007

The pedigrees and cytology of 22 families with Down's syndrome in more than 1 member are presented. In 10 families the patients were sibs, in 6 families cousins or more closely related, and in 6 families they were more distant relatives. Inherited 13–15/21 translocation was the cause of multiple occurrence of Down's syndrome in 4 families. In the other families the patients were found to have the standard trisomy 21 karyotype. No isolated translocations were observed and no other translocation type was found. In one family a ‘marker’D chromosome and in another family a small Y chromosome were observed. One patient showed possible mosaicism with trisomy 21 and a few normal cells.
Transmission of a 13–15/21 translocation in six families
Authors: MIKKELSEN MARGARETA
Published: September 2007

The genealogical, cytogenetical and blood‐group data available for six families with an inherited translocation between a chromosome of the 13–15 group and chromosome no. 21 are presented. In two families the translocation was transmitted through three generations, in two families it occurred de novo in the carrier parent, and in two families it could not be decided if the translocation was inherited from a further generation or originated in the gametogenesis of generation I. In five families the transmission to a patient with Down's syndrome was maternal, in one family it was paternal. Meiotic studies of a testicular biopsy from a male carrier, the father of a child with Down's syndrome, revealed trivalent formation in diakinesis.
The frequency of iris bicolor (segmentary heterochromia) in a school population
Authors: WEISS EDWARD S. , JANOWER MURRAY L.
Published: September 2007

Examination of over 7000 white Maryland schoolchildren disclosed forty‐seven cases of iris bicolor (segmentary heterochromia). None of the cases occurred among the 2300 brown‐eyed children. The authors suggest that the normal frequency of the anomaly in other than brown‐eyed children is about 10 per 1000.
Hereditary multiple epiphysial dysplasia*
Authors: HOEFNAGEL D. , SYCAMORE L. K. , RUSSELL S. W. , BUCKNALL W. E.
Published: September 2007

Clinical, radiological and genetic observations are described in a kindred with multiple epiphysial dysplasia, a hereditary disturbance in growth and development of multiple epiphyses. Blood grouping studies failed to show linkage with the trait in this family.
Pericentric inversion in a group D chromosome (13–15) associated with amenorrhea and gonadal dysgenesis
Authors: COHEN M. M. , CAPRARO V. J. , TAKAGI N.
Published: September 2007

A sex‐chromatin‐positive female with secondary amenorrhea and minimal stigmata of gonadal dysgenesis is described. This diagnosis was confirmed by the observation of ‘streak gonads’ at laparotomy and histologic interpretation of rudimentary ovarian development. Cells cultured from peripheral blood, skin and gonadal tissues for cytogenetic evaluation exhibited an abnormal karyotype. The modal number was 46; however, only five normal chromosomes were found in group D (13–15). An abnormal submetacentric chromosome was also present. Morphologic, measurement and autoradiographic data suggest that the ‘marker’ chromosome represents a pericentric inversion of the sixth D‐group member.
Electrophoretic variants of human 6‐phosphogluconate dehydrogenase: population and family studies and description of a new variant
Authors: DAVIDSON RONALD G.
Published: September 2007

Erythrocyte 6‐phosphogluconate dehydrogenase (6‐PGD) from 2603 individuals was observed on starch gel following electrophoresis and several genetic variants are described. Among them is a new variant (the Friendship variant) detectable only in the absence of NADP from the gel and presenting a triple pattern for erythrocyte enzyme but only a single band for leucocyte or fibroblast enzyme. Family studies indicate that all the variants are due to autosomal co‐dominant alleles, and the population data suggest that the gene frequencies for the common alleles, PGDA and PGDC, are different between Negroes and whites.
Hereditary elliptocytosis: linkage data in man
Authors: GEERDINK R. A. , NIJENHUIS L. E. , HUIZINGA J.
Published: September 2007

The genetic linkage between elliptocytosis and rhesus factors was investigated in six Dutch families with a total of 146 elliptocytotic patients. Accepting the data in the literature on the frequency of recombination of genes in the case of close linkage as a starting‐point, we were able to rule out genetic linkage between elliptocytosis and rhesus factors in three of the families studied (families de M., v. B. and Ri.). In the fourth family, only one information was obtained, which suggested linkage to be improbable (family Mo.). The fifth family (family v. Ac.) yielded no information at all, so that linkage to the rhesus locus could not be ruled out. The study of the sixth family demonstrated close genetic linkage between elliptocytosis and rhesus factors (P 10‐‐7).
On the effects of natural selection on correlations between relatives
Authors: Leach CAROLYN R. , MAYO O.
Published: September 2007

Correlations between sibs and between parent and offspring are considered for autosomal and sex‐linked polymorphisms at loci which affect fitness, and at loci where dominant genes lower fitness. The practical implications of natural selection on estimation of such correlations are discussed, with reference to the mode of action of selection. It is shown that, where fitness is affected by a sex‐linked locus, parenkoffspring correlations in fitness can exist.
A comparison of some properties of human red cell acid phosphatase in different phenotypes
Authors: Luffman JILL E. , HARRIS HARRY
Published: September 2007

1. The red cell acid phosphatase types A, BA, B, CA and CB have been compared with respect to a number of different properties.

2. Types CA and CB have been found to be relatively much more thermostable than types B, BA and A. In the latter group, type B appears to show slightly greater thermostability than type A and type BA appears to be intermediate in this respect.

3. No significant differences between the types were found in denaturation by guanidine or urea.

4. Phosphotransferase activity determined with PNPP as substrate and methanol as acceptor, and expressed as percentage of hydrolytic activity in the absence of the alcohol, appeared to be much the same in the different types. A similar result was obtained when glycerol, propanol and ethanol were used as acceptors. The greatest phosphotransferase activities (more than three times the hydrolytic activities) were observed with glycerol and methanol in concentrations of 20–26%.

5. No marked differences between the types in the pattern of substrate specificity were detected.

6. Considerable retardation of red cell acid phosphatase in gel atration using Biogel P‐60 was observed. The elution peak emerged from the column subsequent to myoglobin and cyto‐chrome c markers. This suggests that the enzyme may have a relatively low molecular weight. Similar results were obtained with each type.
Adenosine deaminase polymorphism in man
Authors: SPENCER N. , HOPKINSON D. A. , HARRIS HARRY
Published: September 2007

A new and specific method for the study of adenosine deaminase isozymes is described.

Examination of red‐cell lysates has revealed three genetically determined electrophoretically different ADA phenotypes: ADA 1, ADA 2–1 and ADA 2.

Family studies indicate that these phenotypes are determined by two alleles, ADA1 and ADA2 at an autosomal locus.

Preliminary population data suggest that ADA2 has a frequency of about 0.06 in European, 0.04 in Negroes and 0.11 in Asiatic Indians.

The behaviour of the ADA isozyme pattern on storage or after treatment with thiol reagents suggests the occurrence of reactive sulphydryl groups in the enzyme molecules.
Inherited variations in human phosphohexose isomerase
Authors: DETTER JAMES C. , WAYS PETER O. , GIBLETT ELOISE R. , BAUGHAN MARJORIE A. , HOPKINSON D. A. , POVEY SUSAN , HARRIS HARRY
Published: September 2007

1. The elctrophoretic pattern of phosphohexose isomerase has been examine in the blood of 3397 unrelated individuals from several different populations groups.

2. Eight variant phenotypes were identinfied and these were designated PHI 2‐1, 3‐1, 4‐1, 5‐11 6‐1, 7‐1, 8‐1, 9‐1. All of these were rare in the populations studied except the variant designated PHI 3‐1, which was observed with a frequency of about 1% in a mixed population of Asiatic Indians.

3. Studies of selected families indicated that the variants occured in individuals who are heterozygous for one or another of a series of rare alleles at an autosomal locus.

4. Studies on the family of a patient that the patient was heterozygous for two different rare alleles at the PHI locus, each associated with reduced PHI activity. The patinet's mother showed the PHI 9‐1 phenotype and his father showed a new phenotype designated PHI 10‐1. The patient's phenotype has been designeated PHI 9‐10.

5. The enzyme appears to be a dimer and in heterozygotes isozymes of hybrid submit compostion as well as isozymes of like subunit compostion are apparently formed.
Chromosome studies on men in a Maximum Security Hospital
Authors: JACOBS PATRICIA A. , PRICE W. H. , BROWN W. M. COURT , BRITTAIN R. P. , WHATMORE P. B.
Published: September 2007

Chromosome studies were done on 315 out of 342 men at the State Hospital, Carstairs, Scotland, a hospital for the treatment of patients with dangerous, violent, or criminal propensities in contitions of special securtiy. All but ten of the men in the hospital had a criminal record and 253 of them were classified as having a severe personality disorder of indetermiante cause. The remainder either had one of the recognized psychoses, or were epileptics, or had brain damage as the result of previous or trauma.

Sixteen of the 315 men examined (5.1%) had an abnormal chromosomes complement detectable in mitotic cells. Of these 9 were 47, XYY, one 48,XXY, one 46,XX/‐47, XXY/48, XXXY, while 4 had a structural autosoma abnormality. Two of the latter were 46,XY, D‐, D‐, t(DqDq)+, 1 was 46,XY, t(1?‐;169?+) and 1 was 46, XYGq‐. The possible significance of these findings is discussed in regard to behavioural disorders and details are given in the appendix of the family histories, criminal records and clinical and cytological findings for sixteen men.
A third phosphoǵlucomutase locus in man
Authors: HOPKINSON D. A. , HARRIS HARRY
Published: September 2007

1. Investigation of human tissue extracts by starch gel electrophoresis has vevealed three groups of isozymes with PGM activity.

2. Previous studies on red cell lysates have established that two of these groups of isozymes, PGM1 and PGM2 are determined by two separate autosomal loci, PGM1 and PGM2 respectively.

3. The new series of isozymes, designated PGM3, are electrophoretically faster than the other PGM components, constitute only a small fraction of the total PGM activity, and exhibit person‐to‐person differences in electrophoretic patten which are independent of te PGM1 and PGM2 variants. Three commonly occuring phenotypes have been recognized : PGM3 1, PGM3 2‐1 and PGM3 2.

4. The genetics of this polymorphism have been studied using plancentae derived from pairs of non‐identical twins. The reult suggest the occurence of two common alleles PGM1/3 and PGM2/3 at an atosomal locus, with frequencies of 0.74 and 0.26 respectively in the English population and 0.34 and 0.66 respectively in the Nigerian population.

5. Tests for linkage using the twin data indicate that the PGM1 and PGM3 loci are not closely linked.

6. The possibility of structural homologies between the various PGM isozymes is noted.
Variants of red cell ǵlucose‐6‐p‐hosphate dehydroǵenase amonǵ Asiatic Indians
Authors: AZEVEDO ELIANE , KIRKMAN H. NEIL , MORROW ANNE C. , MOTULSKY ARNO G.
Published: September 2007

Among one hundfed and one unrelated Asiatic Indian males living in the Pacific north‐west, five G‐6‐PD‐deficient individuals were identified. The enzyme of three of these individuals was indistinguished elctrophoreticaly and biochemically from the Mediterranean type of deficiency. These individuals originated from the north‐western parts of the Indian subcontinent.

The enzyme of one individual and that of his subsequently studied beother (G‐6‐PD Kerala) was found to be simialr to G‐6‐PD Seattle by km G‐6‐P, km TPN, pH optimum, utilization of 2d‐g‐6P and Gal‐6‐P and electrophoretic migration rate in Tris buffer, pH 8.8. Electrophoresis on TEB buffer (pH 8.6) however, showed this variant to be different from G‐6‐PD Seattle, The desirability of using multiple electrophoretic methods in the elucidation of new variants is emphasized by these observations.

The third abmormal G‐6‐PD (G‐6‐PD West Bengal) was unlike other mutations previously described in having higher‐than normal km TPN and lower‐than‐normal km G‐6‐P and a slow electrophoretic mobilty.

The identification of the Mediterranean type of G‐6‐PD deficiency in the north‐western part of the Indian subcontinent, together with histrorical and molecular considerations, suggests affiinities of Mediterranean, Near Eastern, and North‐west Indian populations.
Liver pyruvate kinase (PK) isozymes in a PK‐deficient patient*
Authors: Bigley R. H. , Koler R. D.
Published: September 2007

Liver from a patient with hereditary haemolytic anaemia due to pyruvate kinase deficiency is a deficient in the ‘erythrocyte’ PK isozyme as are her erythrocytes. The chromatographic, electrophoretic, antigenic, heat stability and kinetic properties of the patient's enzyme were not different from normal.
Hyperprolinaemia in two successive ǵenerations of a North American Indian family
Authors: PERRY THOMAS L. , HARDWICK DAVID F. , LOWRY R. BRIAN , HANSEN SHIRLEY
Published: September 2007

Hyperprolinaemia is described in a North American Indian family, with occurence of the disorder in two successive geenration, and evidence of associated hereditary renal abnormalities in members of three generations. The propositus late developed a Wilms' tumour. Individuals with marked elevation of fasting plasma proline concentration may well be homozygous for an abnormal gene regulating proline oxidase activity. Heterozygotes for this gene may have either normal or moderately elevated plasma proline, and like the homozyzotes may also have renal abnormalities. Mental retardation is not a characteristic feature of hyperprolinaemia.
Genetically determined electrophoretic variants of human red cell NADH diaphorase
Authors: HOPKINSON D. A. , CORNEY G. , COOK P. J. L. , ROBSON E. B. , HARRIS HARRY
Published: September 2007

Human red cell NADH diaphorase isozyme patterns have been examined in blood samples from 2783 unrelated individuals by starch gel electrophoresis. Most people exhibit a single banded isozyme pattern, designated phenotype Dia 1. Twenty‐nine people with variant isozyme patterns were encountered. Five different phenotypes (Dia 2‐1, 3‐1, 4‐1, 5‐1 and 6‐1) were identified, which from family studies appear to represent heterozygous combinations of one or other of a series of rare alleles (Dia2, Dia3, Dia4, Dia5 and Dia6) with a common allele (Dia1) at an autosomal locus.

Studies on the children of a first cousin marriage led to the identification of a sixth variant phenotype, Dia 2, which is believed to represent the homozygous genotype Dia2Dia2.

Individually all of the variants were rare, although collectively the frequency of NADH diaphorase variants was about one in a hundred in European, Indian and Negro population samples. More than half the total number of variants observed were phenotype Dia 2‐1 or Dia 4‐1.

The rare Dia6 allele probably determines a low activity form of NADH diaphorase.

There was no evidence of linkage between the NADH diaphorase locus and several blood group and other autosomal gene loci.
Three dicentric Y chromosomes*
Authors: ANGELL R. , GIANNELLI F. , POLANI P. E.
Published: September 2007

Three females, two with gonadal dysgenesis, are discussed who were chromatin negative and chromosomally showed mosaicism with two cell lines. One line was 45, X and the other had 46 chromosomes one of which was clearly dicentric in most cells and interpreted as a relatively stable dicentric Y isochromosome. In the first two subjects the isochromosome was of the long arms of the Y, and quantitative autoradiography in the first case supported this contention. The third dicentric isochromosome was thought to be of the short arms of the Y Laparotomy and gonadectomy were done in the first two patients. Serial sections of the gonads showed a single sterile testicular tubule in the right gonad of the first patient, while the left gonad of this patient and the only gonad of the other were sterile ‘streaks’.
Pictorial representation of the distribution of the sickle‐cell trait by contours drawn by a computer‐controlled X‐Y plotter
Authors: SPLAINE M. , LINTOTT A. P. , BARCLAY G. P. T.
Published: September 2007

A computer method has been employed to prepare maps, the contours of which join places of equal sickle‐cell trait carrier rate. This method of presentation is of particular value where large areas havc been surveyed and poor communications demand that samples be taken as and where they can be obtained. The distribution patterns revealed by the computer maps could well lead to a better understanding of the polymorphism.
Genetics of haemoglobin H and α‐thalassaemia
Authors: KOLER R. D. , JONES R. T. , WASI P. , POOTRUKUL S.
Published: September 2007

Genetic models to describe the α‐thalassaemias are reviewed. Two of these, a one‐locus model with three alleles and a two‐loci model without linkage, are compared with population data from Thailand. Both models fit the observed data. Further tests are proposed to distinguish among these two and a third alternative, two linked a‐chain loci.
BLOOD GROUPS IN PERSIAN JEWS A COMPARATIVE STUDY WITH OTHER ORIENTAL JEWISH COMMUNITIES
Authors: GUREVITCH J. , HASSON E. , MARGOLIS E.
Published: September 2007

ABO, MN and Rh‐Hr blood‐group frequencies in 200 Persian Jews are reported and compared with findings in other oriental Jewish communities.
COLOUR BLINDNESS and THE DUCHENNE‐TYPE MUSCULAR DYSTROPHY
Authors: PHILIP URSULA , WALTON JOHN N.
Published: September 2007

A family is reported in which there was crossing‐over between the gene for the Duchenne‐type muscular dystrophy and that for incomplete red‐green colour blindness. The crossing‐over percentage was 25.
GENETICAL INVESTIGATIONS IN A NORTH SWEDISH POPULATION
Authors: BÖÖK J. A.
Published: September 2007

Within a certain North Swedish geographical isolate all marriages between first cousins existing on 1 September 1947 were registered. The data comprise thirty‐four such marriages with a total of 218 live‐born children, and thirty‐two random control families with 165 children. All individuals have been subjected to qualified medical examinations. The following main results were obtained:

The fertility of the cousin marriages did not show any significant deviation from the average fertility in this population.

The mortality of live‐born cousin children was not significantly higher than that of the control children.

The frequency of spontaneous abortions and still‐births was lower in the cousin families. However, the total mortality cannot be claimed to differ significantly from the average in the population.

Cousin parents tend to produce more intellectually defective and less gifted children than average control parents.

The total genetic morbid risk for children from first‐cousin marriages was considerably increased, i.e. about 16% against about 4% for children from random marriages.

A method of estimating the prevalence of detrimental autosomal recessive genes in human populations is outlined. Tentative calculations gave the following results. A minimum of three detrimental autosomal recessive genes in the heterozygous condition per individual is suggested. It seems reasonable to assume that the total number of different autosomal recessive genes (loci) with recognizable major detrimental effect in homozygotes in the population is between 150 and 450.

It is strongly emphasized that the results refer to a specific population. Pending further data from other populations they should not be generalized uncritically. The estimates under (6) are only partly based on precise data, and should therefore only be accepted with great caution.

In preparing this paper, it has been a great asset to me to have the privilege of discussing several details with Prof. L. S. Penrose of the Galton Laboratory. I am also grateful for the note he has prepared to supplement this paper.
Average heterozygosity per locus in man: an estimate based on the incidence of enzyme polymorphisms
Authors: HARRIS HARRY , HOPKINSON D. A.
Published: September 2007

1. Data from electrophoretic surveys of enzymes in European populations are reviewed.

2. Out of the seventy‐one structural gene loci determining enzyme structure which have been scrutinized electrophoretically, 20 (28 %) were found to show genetic polymorphism. The average heterozygosity per locus for alleles determining electrophoretic variants is estimated at 0·067.

3. These results are compared with data from some other species.

4. For several different reasons, most of which relate to the techniques used and the enzymes and tissues surveyed, it seems likely that the present data considerably underestimate the true incidence of polymorphism and average heterozygosity per locus.
Distribution of genetic variants of erythrocyte phosphoglycerate kinase (PGK) and phosphohexose isomerase (PHI) among some population groups in south‐east Asia and Oceania
Authors: OMOTO K. , BLAKE N. M.
Published: September 2007

More than 4000 blood samples from populations in Japan, Micronesia, Singapore, West Irian, New Guinea and Australia have ben typed for phosphoglycerate kinase (PGK) and phosphohexose isomerase (PHI)

Normal PGK‐1 patterns were observed in all populations except in Micronesia, parts of West Irian and the Western and Eastern Highlands of New Guinea. In Micronesia both PGK‐2 and PGK2‐1 patterns were observed and the gene frequency of pgk2 was 0.07. In West Irian and the Highlands of New Guinea PGK‐4 and PGK 4‐1 patterns were observed and the highest pgk4 frequency was 0.051 among males in the Western Highlands.

Only nine individuals were detected with PHI variant patterns. One PHI 2‐1 was found in a Chinese and two PHI 3‐1 persons were observed among Malays in Singapore, four PHI 5‐1 in the Western Highlands of New Guinesa and one PHI 5‐1 in a Japanese: one PHI 4‐1 was found among Aborigines in Northern Australia.
Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy)*
Authors: THOMAS P. K. , CALNE D. B. , STEWART G.
Published: September 2007

1. The clinical, electrodiagnostic and nerve biopsy findings gained in a study of 17 families with hereditary motor and sensory polyneuropathy of autosomal dominant inheritance (peroneal muscular atrophy) are presented.

2. The families fall into two groups: the first, of 12 families, shows in all the affected individuals examined a marked reduction in nerve conduction velocity; in the second group of five families no individuals examined show a marked reduction in conduction velocity. Many, but not all, of the first group show palpable nerve hypertrophy. None in the second group does. In the first group, six nerve biopsies all show conoentric Schwann cell proliferation around myelinated axons or with no central axon, whether peripheral nerve thickening was found or not. No biopsies have been taken in the second group.

3. The electrodiagnostic findings are held to show that at least two different autosomal loci are involved in the genesis of the disorder. In addition, the clinical findings in the first group are held to indicate the possibility of further genetic heterogeneity in that group.

4. Data relating to age of onset and its correlation between parents and children, between sibs and between first cousins are discussed; they indicate the possibility of allelic modification in the production of the extensive intrafamilial variation found in all families.

5. It is held that the classical diagnostic categories of peroneal muscular atrophy, hereditary hypertrophic polyneuropathy and the Roussy‐Lévy syndrome cannot be applied to families and are poor descriptions of genetic entities though they may describe individual cases. It is suggested that hereditary motor and sensory polyneuropathy of autosomal dominant inheritance is at present a satisfactory title for the group of disorders.
The detection and differentiation of the products of the human carbonic anhydrase loci, CAI and CAII using fluorogenic substrates
Authors: HOPKINSON D. A. , COPPOCK J. S. , MÜHLEMANN M. F. , EDWARDS Y. H.
Published: September 2007

1. The carbonic anhydrase isozymes of human red cells have been investigated by starch‐gel electrophoresis using the fluorogenic substrates, 4‐methyl‐umbelliferyl acetate and fluorescein diacetate, for the detection of the CAI and CAII locus isozymes respectively.

2. The previously described electrophoretic polymorphism at the CAII locus was easily distinguished using fluorescein diacetate as the stain, thus reducing the need for a specific anti CAII antiserum in future population and family tests.

3. The variant allele CAII2 (previously designated CA II‐H) was found to occur with a frequency of 0·046 in a population sample of 196 Black Africans living in London. No electrophoretic variants of CAII were detected in a survey of 434 Europeans and 304 Asiatic Indians living in London.

4. No electrophoretic variants of CAI were detected in the three population groups tested.
Electrophoretic polymorphism of glutathione peroxidase
Authors: BEUTLER ERNEST , WEST CAROL , BEUTLER BRUCE
Published: September 2007

A method for the detection of glutathione peroxidase after electrophoresis on starch gel has been devised. Blood samples from 780 persons of Caucasian or Negro origin were studied. An electrophoretically fast enzyme, designated as the Thomas variant, was found in 6·4 % of 392 Negro donors and 0·8 % of 388 Caucasian donors. This variant was inherited in an autosomal dominant fashion. A slightly rapid electrophoretic mobility was noted in some cord blood samples and in a father and daughter with a refractory anaemia. Because this variant, designated ‘Musi’ differed so little from the normal variant, it was difficult to further characterize it, but it did not appear that this variant was genetically determined.

Glutathione peroxidase from most other tissues had the same electrophoretic mobility as the enzyme from erythrocytes, but the enzyme from cultured human fibroblasts moves more rapidly. Various laboratory animals were found to have electrophoretically distinguishable glutathione peroxidase, but efforts to hybridize hamster enzyme to human enzyme were unsuccessful.
Further studies on erythrocyte inorganic pyrophosphatase: an examination of different mammalian species and human‐Chinese hamster hybrid cells
Authors: FISHER RACHEL A. , PUTT WENDY , HARRIS HARRY
Published: September 2007

Erythrocyte inorganic pyrophosphatase has been examined electrophoretically in 32 different species of mammals. The electrophoretic mobilities have been compared and secondary isozyme production has been seen to be notably more marked in certain species, particularly the higher primates.

Special attention has been given to the enzyme in the mouse and Chinese hamster. In cultured cells, the mouse enzyme is indistinguishable from that of the human. The Chinese hamster enzyme moves more anodally than the human enzyme but its pattern is somewhat confused by other pyrophosphatases.

A human‐hamster hybrid clone was examined. It was found to have a human erythrocyte inorganic pyrophosphatase complement. A single hybrid band intermediate between the human and hamster bands was seen. This was taken as further evidence that the enzyme is dimeric.
Simulation of Mendelism by a non‐genetic Markov Chain Model
Authors: WILSON S. R.
Published: September 2007

An environmental Markov chain model for the mode of inheritance of a disorder is given, and the intrafamilial frequencies determined, and it is shown how closely this model can simulate the monogenic model.
The genetics of placental alkaline phosphatase: a possible ‘null’ allele
Authors: DONALD LYNDA J. , ROBSON ELIZABETH B.
Published: September 2007

Data are presented on the placental alkaline phosphatase (Pl) phenotypes of 3655 placentae, including those from 1143 dizygotic twin pairs. Discrepancies are present between the observed numbers and those expected according to Hardy‐Weinberg equilibrium, homozygotes being apparently in excess. This statistical discrepancy can be reduced to insignificance by proposing that the Pl system contains a ‘null’ allele, Pl0, in addition to the 17 alleles for which there is electrophoretic evidence. The plausibility of this suggestion is examined in the light of what is known about ‘null’ alleles in other enzyme systems and in other species.
The red cell 6‐phosphogluconate dehydrogenase polymorphism in certain Southern African populations; with the first report of a new phenotype
Authors: JENKINS TREFOR , NURSE G. T.
Published: September 2007

Studies have been carried out on the 6‐phosphogluconate dehydrogenase polymorphism in over 3400 Southern Africans representing 34 distinct populations. The two commonest variant alleles, PGDCand PGDR, attain their highest known frequencies in the subcontinent.

It has been shown that while the very high frequency of PGDCfound by previous workers in the Xhosa does not extend to the other South African Negro populations, the Dama of South West Africa have a frequency of PGDRhigh enough to be polymorphic. It is suggested that certain other populations possessing the PGDRallele may have obtained it from the Dama via the slave trade from Angola.

A new electrophoretic variant of GPGD, has been found in a member of the Kuanyama division of the Ambo peoples of South West Africa and has been named 6PGD Oshakati and the allele determining its synthesis PGDS.
The genetics of the Lp antigen
Authors: SCHULTZ J. S. , SHREFFLER D. C. , SING C. F. , HARVIE N. R.
Published: September 2007

The frequency distribution of the quantitative activity of the Lp antigen was found to be bimodal. It is hypothesized that a major genetic factor is operating to determine the modes.
D/D translocations in newborn children
Authors: FRIEDRICH URSULA , NIELSEN JOHANNES
Published: September 2007

A family study has been made of seven unselected probands with 13/14 translocations found among 5049 consecutive liveborn children at a Danish maternity hospital. All cases were 13/14 translocations and all were familial. No individuals with unbalanced chromosome constitution were found in the seven families, and there was no information which might indicate the presence of individuals with Down's syndrome among the relatives.

The segregation rate of carriers to normals did not deviate from unity. The frequency of abortions, stillbirths and infant mortality among the carriers was not significantly higher than among non‐carriers.

Fertility among male carriers was comparatively low compared with female carriers and male carriers with normal chromosomes, but the difference was not significant.

There was no indication of any increased risk of mental or physical disorders in carriers compared with normals.
Statistical resolution of genetic heterogeneity in familial disease
Authors: SMITH CHARLES
Published: September 2007

If a disease can be split into two or more groups on any criterion (clinical, biochemical, physiological or statistical) then the grouping can be tested to establish if genetically independent forms of the disease have been identified. The data required are simply the frequencies of the two disease groups in relatives of probands for each of the disease groups. A systematic search for such distinct groups is proposed in searches for genetic heterogeneity in familial diseases.
Adenylate kinases in man: evidence for a third locus
Authors: WILSON D. E. , POVEY SUSAN , HARRIS HARRY
Published: September 2007

The tissue distribution of the adenylate kinase isozymes in man has been examined using various substrates. The isozymes attributable to the AK1 and AK2 loci were identified, and an additional set of isozymes probably attributable to a third locus was also found. This locus has been provisionally designated AK3.

The AK3 isozymes show activity with either GTP + AMP or ITP + AMP but do not show activity with ATP + AMP. They also differ from the AK1 end AK2 isozymes in electrophoretic mobility and from the AK1 isozymes in being resistant to silver inhibition. They are similar in molecular size to the AK1 isozymes whereas the AK2 isozymes are apparently larger. The AK3 isozymes evidently correspond to the enzyme nucleosidetriphosphate‐adenylate kinase (2.7.4.10).
Racial variations in the incidence of congenital malformations
Authors: ERICKSON J. DAVID
Published: September 2007

Racial variation in the incidence of several common congenital malformations has been studied in Atlanta, Georgia. The white‐to‐black incidence ratios were substantially different from unity for single defects, while approximate equality of rates was noted for multiple defects. Amongst the specific malformations for which familial data were available, affected first‐ and second‐degree relatives were found only in the families of probands with single defects. It is postulated that these findings may indicate a more prominent function of the environment in the genesis of multiple malformations than is the case for single defects, the occurrence of which may be more strongly affected by non‐sporadic genetic factors.
Human alcohol dehydrogenase ADH1, ADH2 and ADH3 loci in a mixed population of Bahia, Brazil
Authors: AZEVĚDO ELIANE S. , CHRISTINA MARIA , SILVA B. OLIMPIO DA , TAVARES‐NETO JOSÉ
Published: September 2007

1. The three structural gene loci of human alcohol dehydrogenase have been studied in liver, jejunum and lung from 300 newborns in a triracially mixed population of Bahia, Brazil.

2. The frequency of the ADH23 allele was 0,1392, suggesting that the ADH23 allele is less frequent in Negroes.

3. A new ADE2 variant was identified. The electrophoretic pattern was interpreted as due to a new allele which is provisionally called ADH2Bahfa.

4. By electrophoretic classification the ‘atypical’ variant was found in 2.8% of the sample. A question is raised regarding the ancestral origin of the ‘atypical’ variant in the population. Because this variant is common in Japanese it may have reached the present day population of Bahia through their American Indian ancestors.

5. Subjective estimation of the proportions of β chains by giving scores to the liver isozymes αα, αβ and βß showed a clear relationship between the fetal weight and the β chain activity.

6. The proportion of β chains in the liver is significantly less when there is no enzyme activity in the lung, indicating some synchronous ‘turning on’ mechanism for alcohol dehydrogenase synthesis in both tissues.
Selection of biochemically variant clones of human lymphoid cells
Authors: CLEMENTS G. B.
Published: September 2007

Two established clones of human lymphoid cells, Raji and P3HR1, could be cloned in semi‐solid agarose‐containing medium at high efficiency. Several other human lymphoid cell lines examined cloned poorly if at all under these conditions. Variant clones of Raji and P3HRI resistant to 6‐thioguanine, and in the case of Raji also to either 8‐azaadenine or 5‐bromo‐2'‐deoxyuridine, were selected and characterized.
Bernstein's and gene‐counting methods in generalized ABO‐like systems
Authors: NAM JUN‐MO , CART JOHN J.
Published: September 2007

Although the simple and adjusted Bernstein's methods are fully efficient for m = 2 and m = 3 (ABO system) respectively, their efficiency declines for larger values of m. For m 4, the adjusted or modified Bernstein's method with a single counting iteration leads to a nearly efficient estimator. A single degree of freedom chi‐square test of the Hardy‐Weinberg law for all m is derived. Some findings on the statistical efficiency of typing various numbers of antigens are given. All the results are illustrated in numerical examples.
Visual classification of banded human chromosomes:
Authors: LUNDSTEEN CLAES , GRANUM ERIK
Published: September 2007

Visual classification and karyotyping of 897 integrated density profiles generated from straight and non‐overlapping chromosomes from 22 trypsin‐bandedmetaphases of average quality was carried out and evaluated. The results were compared with visual classification of photographic prints of the same 897 chromosomes. The experiments were carried out by one observer.

About 5% errors were made in classification of isolated profiles; 0.5% errors were made in karyotyping profiles and about 3% errors were made in classification of isolated chromosome prints.

The reason for the small error rate obtained by karyotyping profiles as compared to the error rate when classifying isolated profiles was assumed to be the use of a priori knowledge of the composition of (normal) metaphases and the possibility of making appropriate comparisons between the individual profiles within the metaphase.

Comparison between classification of isolated prints and of profiles showed different error patterns on the basis of which it was assumed that prints constitute a better basis for visual classification than profiles.

The results seemed to indicate two ways of improving computer classification of banded chromosomes: (1) information of value in the chromosomes (band pattern, shape etc.) should be extracted from the digitized chromosome image in a manner superior to the simple integration by which profiles are produced; (2) computer karyotyping should simulate the human method, thus taking advantage of a priori knowledge of the composition of the metaphases and being able to make appropriate comparisons between individual chromosomes.
Assignment of the DIA1 locus to chromosome 22
Authors: FISHER R. A. , POVEY S. , BOBROW M. , SOLOMON E. , BOYD Y. , CARRITT B.
Published: September 2007

Human/rodent hybrid cell cultures were examined for the presence of 1 and other marker enzymes. Many of these hybrids were also analysed for human chromosomes. Complete concordance was found only with chromosome 22.
On the orientation of the Rh: El1 linkage group
Authors: COOK P. J. L. , NOADES J. E. , NEWTON M. S. , MEY R. de
Published: September 2007

A family which segregates simultaneously for PGD, elliptocytosis, Rh, aFUC and PGM1 contains a recombinant suggesting that the loci lie in this order.
The tissue distribution of hexosaminidase S and hexosaminidase C
Authors: BEUTLEE ERNEST , KUHL WANDA
Published: September 2007

The proportion of hex S to hex C in normal and Sandhoff's fibroblasts was determined to be between 1:1 and 1:2 by differential staining of hex S at pH 4.4 with 4‐methylumbelliferyl‐β‐N‐acetylgalactosaminide and of hex C at pH 7.0 with 4‐methylumbelliferyl‐β‐N‐acetylglucosaminide. Hex S and hex C were also semi‐quantitated in various normal tissues‐brain, liver, spleen, heart, kidney, intestine, placenta, skeletal muscle and fibroblasts. Hex C was most prominent in brain and, somewhat less so, in liver, skeletal muscle and fibroblasts. The greatest amount of hex S activity was found in fibroblast, but it was also observed in lesser amounts in liver, kidney, intestine and placenta.
Absence of triradius d on the palms of normal people
Authors: HOLT SARAH B. , SHARMA P. DASH
Published: September 2007

Absence of the digital triradius d is a very rare phenomenon, previously only reported in abnormal XXXXY males. During the past few years the anomaly has been found on the palms of three normal females, namely a young English woman and two sisters in the Nicobar Islands in the Indian Ocean. These cases are described and illustrations of the palmar dermatoglyphics presented.
Multivariate studies on the genetics of dermal ridges
Authors: ROSTRON JOHN
Published: September 2007

In order to investigate the inheritance of the series of ten ridgecounts, factor analysis was used to reduce the dimensionability to two. These two factors are inherited more or less independently and the heritability of the first is 0.97.
Selection at a multiallelic locus: Feller's transformation
Authors: EDWARDS A. W. F.
Published: September 2007

An explanation of Feller's result enabling the contours of mean viability at a triallelic locus to be rendered circular is offered, and a proof given which does not involve the direct use of homogeneous coordinates. In a subsequent paper we propose to use the fact that the same transformation also maps the contours of equal average effect for each gene into circles to establish further results.
The correlation between estimates of familial frequencies
Authors: WILSON S. R.
Published: September 2007

For the determination of the mode of inheritance of a disease or disorder familial data is often used and is usually presented in frequency form. This data has usually been obtained from a single set of nuclear families and so the estimates of the frequencies in relatives of those affected are not independent of one another and this makes inference concerning the mode of inheritance difficult. The exact degree of the correlation between estimates is not easy to determine. In this paper expressions are derived for the asymptotic variances of estimates and for the covariances and correlations between the basic pairs of intrafamilial frequency estimates for families of a given structure, and the extension to families of different sizes and structures is outlined. It is shown that these correlations are not necessarily negligible and should be taken into consideration when testing hypotheses concerning the mode of inheritance.
Frequency of RFA colour polymorphisms of human acrocentric chromosomes in Caucasians: interrelationship with QFQ polymorphisms
Authors: VERMA RAM S. , DOSIK HARVEY , LUBS HERBERT A.
Published: September 2007

One hundred normal Caucasians were studied by sequential QFQ and RFA in order to estimate the type and frequency of variation. Colour variants were classified into 1 of 6 colours by RFA and intensity variations into 1 of 5 levels by QFQ. The interrelationship between QFQ and RFA variants was also examined. It was found that there was no consistent relationship between negative or brilliant QFQ variants and the various colours observed with RFA. RFA colour polymorphisms for chromosomes 13, 14, 15, 21 and 22 were 33.0, 38.0, 28.0, 50.0 and 24.5% while QFQ frequencies were 56.5, 10.0, 10.0, 15.5 and 10.0% respectively. RFA is especially useful in studying the inheritance of chromosome 21.
Human mitochondrial malic enzyme variants: properties of the different polymorphic forms
Authors: BURCHELL ANN , CROSBY ANGELA , COHEN PATRICIA T. WADE
Published: September 2007

1. The human mitochondrial malic enzyme polymorphism was found to exist in the Scottish population with similar allele frequencies to those reported previously for Caucasian populations.

2. The mitochondrial malic enzyme variants MEM1, MEM2‐1 and MEM2 which form the polymorphism have been separated from the cytoplasmic malic enzyme and partially purified by DEAE Sephadex chromatography.

3. The properties of the three mitochondrial malic enzyme variants were examined. No differences were found between the variants in Km for NADP, Km for pyruvate, Mn2+ and Mg2+ activation, Ki for dicumarol, heat stability, pH or ionic strength optimum.
The deficiency of a lysosomal acid hydrolase in two clones derived from the human lymphoblastoid line F137 after mutagen treatment
Authors: GARDINER S. ELIZABETH , SWALLOW DALLAS M. , HARRIS HARRY , ARTHUR ELIZABETH , EVANS H. J.
Published: September 2007

Two clones (out of a total of 181 clones tested) derived from the human lymphoblastoid (lymphoid) line F137 after mutagen treatment were found to be deficient in a lysosomal acid hydrolase. The clone N32 derived from EMS‐treated F137 is deficient in N‐acetyl hexosaminidase A and B but contains normal levels of N‐acetyl hexosaminidase C and low levelsof an enzyme resembling N‐acetyl hexosaminidase S. Thus the enzyme deficiency in this clone appears to resemble the so‐called Sandhoff variant of Tay‐Sachs disease, a disease inherited as an autosomal recessive condition. The clone G3 derived from MNNG treated F137 is deficient in α‐galactosidase A. This clone resembles the situation in X‐linked Fabry's disease.

Karyotype analysis of the clones failed to reveal any chromosome rearrangement or losses of chromosomal material that might have accounted for the mutations and it is suggested that a single point mutation might in each case account for the loss of enzyme activity.

No storage of the natural substrates of the two enzymes could be demonstrated in the clones.
The frequency in Japanese of genetic variants of 22 proteins
Authors: UEDA N. , SATOH C. , TANIS R. J. , FERRELL R. E. , KISHIMOTO S. , NEEL J. V. , HAMILTON H. B. , BABA K.
Published: September 2007

This paper presents the results of a survey of Japanese for electrophoretic variants of CA I, CA II, LDH, MDH, TPI, NP, HB A and A2, the number of determinations per system ranging from 738 to 4029. Pour similar variants of CA I (designated CA IHIRI), one of LDH (designated LDHNGS1), one of MDH (designated MDH, 7HIR1), two of HB A (one a reascertainment of HB Hijiyama, the other not characterized), and one characterized by the absence of HB A, (δ‐thalassaemia) were observed and are described. The CA IHIR1, LDHNAG1 and MDHs, SHIR1 variants have not been previously observed in Japan. No electrophoretic variants were found in the TPI and NP systems.
Comments on the Penrose‐Stanton model of assortative mating
Authors: STARK A. E.
Published: September 2007

A single‐locus model of assortative mating proposed by Penrose and extended by Stanton is analysed. It is shown that the formulae giving values of correlations between males and relatives derived by Stanton apply to a general class of symmetric, non‐selective mating schemes in equilibrium when genotypes have additive values. The canonical form of Stanton's system is derived, revealing that the assignment of additive values of genotypes does not apply also to the canonical vectors.
On the computation of inbreeding coefficients
Authors: ROSTRON JOHN
Published: September 2007

A method of calculating inbreeding coefficients is described using a recursive algorithm. This has been programmed in ALGOL 68 and in SNOBOL 4. Advantages and disadvant, ages of this method are discussed, and several examples are given.
The value of dual mating data in estimating genetic parameters
Authors: MATTHYSSE STEVEN , KIDD KENNETH K.
Published: September 2007

It is shown that matings between two affected individuals provide important information on the parameters of a single locus model with incomplete penetrance.

S.M. was supported by Research Scientist Development award, P.H.S. grants K2‐MH‐00108, MH‐ 16674 and MH‐25516. K. K. K. was supported in part by P.H.S. grant NS‐ 11786.