bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial Down's syndrome A cytogenetical and genealogical study of twenty‐two families
Authors: MIKKELSEN MARGARETA 
Published: September 2007

SummaryThe 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

SummaryThe 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

ABSTRACTExamination 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

SummaryClinical, 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

SummaryA 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

SummaryErythrocyte 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

SummaryThe 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

SummaryCorrelations 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

Summary1. 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

Summary

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

SUMMARY1. 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

SUMMARYChromosome 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

SUMMARY1. 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

SUMMARYAmong 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

SUMMARYLiver 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

SUMMARYHyperprolinaemia 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

SUMMARYHuman 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

SUMMARYThree 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

SUMMARYA 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

SUMMARYGenetic 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.
GENETICAL INVESTIGATIONS IN A NORTH SWEDISH POPULATION
Authors: BÖÖK J. A. 
Published: September 2007

SUMMARYWithin 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

SUMMARY1. 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

SUMMARYMore 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

SUMMARY1. 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.