bluuebunny/crossref_metadata_2025 huggingface dataset:
The serum cholinesterase variants. A study of twenty‐two families selected via the ‘ intermediate' phenotype
Authors: HARRIS H. , WHITTAKER MARY
Published: September 2007

Serum cholinesterase dibucaine numbers were determined in 119 individuals from 22 families selected through propositi with the ‘ intermediate’ phenotype as denned by dibucaine number. Nineteen of the spouses and 78 of the children of the propositi were studied.

The distribution of dibucaine numbers in the children was bimodal and they could be classified into 43 individuals with the ‘usual’ phenotype and 37 individuals with the ‘intermediate’ phenotype. All the spouses of the propositi had dibucaine numbers characteristic of the ‘usual’ phenotype. Thus the data were consistent with earlier work indicating that the individuals of the ‘intermediate’ phenotype are heterozygous. Fluoride numbers were also determined in the serum of all these individuals. The distributions were again bimodal, and classification into two phenotypes on this basis corresponded closely to that obtained with dibucaine. However, a small number of individuals were found in whom the two methods of classification were discrepant. They were concentrated in two families. The findings suggest the existence of two new uncommon phenotypes, one previously included in the ‘usual’ phenotype and the other in the ‘intermediate’ phenotype. The possible genetical basis of these new phenotypes is discussed.

The spectrophotometer used in this investigation was purchased with a grant from the Central Research Fund, University of London.
The metabolism of methyl thiouracil and thiopentone in tasters and non‐tasters of P.T.C.
Authors: EVANS D. A. PRICE , KITCHIN F. D. , RIDING J. E.
Published: September 2007

Volunteer subjects were given an oral dose of 15 mg. methyl thiouracil per kg. metabolically active mass (wt.0–7). The urine was collected for 4 hr. thereafter and the percentage of the dose excreted in that time has been estimated. There is no indication of bimodality in the distribution of these percentages. The P.T.C. taste threshold titre has been assessed on thirty‐three of the subjects. There is no correlation between the P.T.C. taste titre and the percentage of the dose of methyl thiouracil recovered.

Patients free of constitutional disease were given a dose of 20 mg. thiopentone per kg. metabolically active mass (wt.0–7) intravenously. The plasma thiopentone concentration has been determined on blood taken from the opposite arm from that used for drug injection at 2, 5, 10 and 20 min. following drug injection. The patients' P.T.C. taste titres were determined. Analysis of the data reveals no significant differences in the 2 min. plasma thiopentone concentrations or in the fall of plasma thiopentone concentrations in tasters as compared with non‐tasters.

The significance of the findings is discussed.
Structural heterozygosis in man: analysis of two families
Authors: EDWARDS J. H. , FRACCARO M. , DAVIES PAMELA , YOUNG R. B. , PENROSE L. S. , HOLT SARAH B.
Published: September 2007

Two families are described in each of which the father is presumed to have an autosomal reciprocal translocation as a result of which both children in one family, and one of three children in the other, are grossly abnormal. The reciprocal translocations are probably between chromosomes nos. 9 and 4 in the first family, and chromosomes nos. 1 and 6 in the second family. The abnormalities of karyotype in the children are regarded as examples of duplication deficiencies. Unusual dermal ridge patterns were observed in the individuals with abnormal karyotypes.
Familial Langdon Down anomaly with chromosomal fusion
Authors: PENROSE L. S. , DELHANTY JOY D. A.
Published: September 2007

A family has been described in which the Langdon Down anomaly occurred in two sibs, both of whom have forty‐six chromosomes and a fusion of the 15/21 type. This fusion was also found in one normal sister, mother and grandmother. Another sister, the father, maternal grandfather and mother's brother had normal karyotypes. Palmar dermal configurations were correlated with the presence of the chromosomal fusion.

The writers wish to express their gratitude to all those who co‐operated in this investigation. In particular they would like to thank Dr Marion Ravell, Dr H. P. Smith, Dr R. M. Bates, Dr A. P. Madigan, Dr Sylvia Lawler, Dr Margaret Penrose, Dr Sarah B. Holt, Miss Ruth Marshall, Miss Barbara Warland, Miss Helen Lang‐Brown, Miss Naziha Farman and Mr A. J. Lee. They would specially mention the kindness and co‐operation of the members of the family studied.

We are grateful to the Medical Research Council for a grant to J.D.A.D.: a research grant (RG‐6984) from the United States Public Health Service made the study possible.
Reading of Ishihara (1959) Plates 14 and 15: A new X‐linked recessive colour vision anomaly?
Authors: DRONAMRAJU K. R.
Published: September 2007

Frequency data on 577 males and 608 females from Orissa, India are presented which suggest that the ability to read Plates 14 and 15 of Ishihara (1959) test is determined by a group of X‐linked recessive genes. Five out of the six pedigrees investigated are compatible with the hypothesis. The frequency among males is 34.3% and among females 6‐4%. The frequency of colour blindness (in the usual sense) is 4–6 % among males and 0.16 % among females.

I am grateful to Prof. J. B. S. Haldane, F.R.S. for helpful suggestions and guidance. Messrs M. R. Shastry and P. Srihari Rao assisted in the work.
Studies on linkage between Galactosaemia and the blood groups
Authors: DONNELL G. N. , KOLER R. , SMITH SHEILA MAYNARD
Published: September 2007

Pedigrees, blood types for ABO, Rhesus, MN, Kell, Duffy and Lewis, and erythrocyte galactose‐1‐phosphate uridyl transferase values are presented for eighteen families ascertained because of a galactosaemic child. There is no evidence for linkage between galactosaemia and any of these blood group loci.

The authors would like to express their gratitude to all those who have helped in this investigation, particularly Dr Phillip Sturgeon, in whose laboratory the blood typing was performed, Mrs Grace Perry, Mrs Karen Richardson, Mrs Dorothy McQuiston, Dr William Bergren and Miss Maria Reisz.
Testing for heterogeneity of recombination fraction values in Human Genetics
Authors: SMITH CEDRIC A. B.
Published: September 2007

A method is described for the detection of heterogeneity of recombination fraction values in human data. It uses a comparison of likelihood values. It is applied to the data on elliptocytosis and rhesus previously considered by Morton (1956), together with some new data reported by Bannerman & Renwick (1962). Morton's conclusion that there exists heterogeneity is supported by the new test. The data appear to be best explained by the hypothesis that the families divide themselves into two groups. In the first group, which amounts to something between 20 and 90 % of the whole, the locus for elliptocytosis is closely linked with that for rhesus, the recombination fraction being between 0.01 and 0.1. In the remaining families the two loci are unlinked.
Measurements of likeness in relatives of trisomies
Authors: PENROSE L. S.
Published: September 2007

The significance of correlation coefficients for measuring likenesses between trisomies, their parents and sibs is discussed. Expected formulae and values are given which are based on three different assumptions about non‐disjunction. The most marked distinction is found between correlations for trisomic child and aberrant parent, in whom non‐disjunction has occurred, and that for trisomic child and parent with normal gametes. Observations on measurements of maximal old palmar angle are discussed.

I would like to express my thanks to Mrs Sheila Maynard Smith who has kindly calculated independently all the formulae used in this paper. I am particularly indebted to her for drawing my attention to the proportions of the different types of chromosome pairs in aberrant gametes from heterozygotes when there is 50 % recombination. The frequencies of the types AA, Aa, aA and aa are in the ratio 1:2:2:1 and not in the apparently more likely ratio 1:1:1:1. This peculiarity had been pointed out by Prof. J. B. S. Haldane in the discussion of the formal consequences of parthenogenesis.
A small autosomal ring chromosome in a female infant with congenital malformations
Authors: LUCAS MARY , KEMP N. H. , ELLIS J. R. , MARSHALL RUTH
Published: September 2007

A mentally retarded child with congenital malformations is described in whom a high proportion of cells contained a small ring chromosome derived from a no. 18 (Denver classification). The variability in the morphological appearance of the ring chromosome is illustrated and its stability is discussed in relation to other instances of ring chromosomes in both man and other organisms.

The writers wish to thank Dr Margaret D. Baber and Dr Ursula James for their co‐operation during this investigation, Mr A. J. Lee for preparing the figures and Miss Penelope M. Carr, Miss Linda Z. Gorman and Miss Barbara J. Warland for technical assistance.

Research grants from the British Empire Cancer Campaign (N.H.K.), from St George's Hospital (M.K.L.) and from the United States Public Health Service (RG‐6984) (J.R.E. and R.M.) made this study possible.
Parental origin of the sex chromosomes in the XO and XXY karyotypes in man
Authors: FRASER G. R.
Published: September 2007

Maximum likelihood methods are described whereby studies of segregation at sex‐linked loci may be used to determine the sex chromosome contribution of the parents to individuals of the XO and XX Y karyotype. With the use of the colour blindness, Xg blood group and G­6­PD deficiency loci, it is to be hoped that such data will quickly accumulate.

I should like to thank Prof. A. G. Motulsky for suggesting this problem and both him and Prof. B. M. Bennett for many helpful discussions. I am most grateful to the referee for useful comments.
Taste sensitivity and endemic goitre in Israel
Authors: BRAND N.
Published: September 2007

Taste thresholds for phenylthiourea were measured in 962 Israeli children and adolescents. The incidence of non‐toxic nodular goitre (endemic goitre) among these subjects was investigated. A large difference of non­tasters frequency was found between goitrous and non‐goitrous subjects, i.e. 20·;8 and 4·7%, respectively. It has been concluded that non‐tasters may be somewhat more susceptible to the development of nodular goitre than tasters. The frequency of non‐tasters among the whole sample is 9·5%, which is as low as in Mongoloid groups, i.e. 10·6% for Chinese and 7·1% for Japanese.
Nail‐patella syndrome in an Indian family: clinical and linkage data
Authors: SHARMA J. C.
Published: September 2007

Of 11 persons found to have the nail‐patella syndrome in an Indian family, two show malposition of teeth of a marked but unspecific nature. It will be difficult to determine whether this feature is one more effect of the nail‐patella allele. The linkage estimate for the nail‐patella and ABO loci (1 recombinant in 16 meiotic products) is consistent with estimates in families of European origin.

The author is grateful to the members in the pedigree who so willingly offered themselves for the investigation. Thanks are also due to Mi D. Roy Choudhry, Deputy Keeper (Anthropology), National Museum, New Delhi, for his help during the study.
Further studies on the genetics of placental alkaline phosphatase
Authors: ROBSON ELIZABETH B. , HARRIS HARRY
Published: September 2007

1. Six common and nine rare electrophoretically distinct phenotypes of human placental alkaline phosphatase are described.

2. Their incidence has been determined in nearly 600 placentae derived from single births in an ‘ English’ population, and in placentae from more than 500 twin births. Smaller numbers from Negro and Indian populations have also been studied.

3. Strong evidence supporting the hypothesis that these phenotypes are determined by three common and six rare alleles at an autosomal locus is provided by:

(a) The characteristics of the electrophoretic patterns observed in the different phenotypes.

(b) The agreement of the observed numbers of the various phenotypes in the different populations studied with the numbers expected, assuming a Hardy‐Weinberg equilibrium.

(c) Detailed sib‐pair analysis of the phenotypes in the pairs of placentae obtained from more than 400 dizygotic twins. These data also show that the placental phenotype is determined by the genotype of the foetus.

4. The results on the Negro population indicate that the gene frequencies are very different from those in the ‘English’ population.

5. The effect of neuraminidase on the electrophoretic mobility of placental alkaline phosphatase suggests that there may be eight available sialic acid residues per enzyme molecule. This appears to be the same for all the common phenotypes.

6. A model for the structure of placental alkaline phosphatase is suggested which will account for the triple‐banded pattern characteristic of heterozygotes and also for the relative intensities of the three bands seen in different heterozygotes.
Inherited quantitative variations of human phosphogluconate dehydrogenase
Authors: PARR C. W. , PITCH LINDA I.
Published: September 2007

Two families with erythrocyte phosphogluconate dehydrogenase (PGD) deficiency were studied.

In one family the deficiency was partial, and affected individuals had about half the usual levels of enzyme in both red and white cells. The deficiency appeared to be determined by a structural gene PGDO, allelic with other PGD genes known to determine electrophoretic character. The evidence suggests that, if indeed the PGDO allele does give rise to the formation of a subunit, this subunit is incapable of combining with other subunits to produce the dimeric PGD enzyme.
Pep A5–1 and Pep A6–1: two new variants of peptidase A with features of special interest
Authors: LEWIS W. H. P. , CORNEY G. , HARRIS HARRY
Published: September 2007

1. Two rare peptidase A phenotypes, Pep A 5–1 and Pep A 6–1, have been found in the course of population surveys of red cell peptidases.

2. Family studies indicate that they occur in heterozygotes. The two rare alleles have been designated Pep A5 and Pep A6. The genotype of Pep A 5–1 may be written Pep A1Pep A5 and that of Pep A 6–1 individuals Pep A1Pep A6.

3. The Pep A 5–1 electrophoretic pattern changes in a characteristic manner on storage of the haemolysate. It is suggested that the changes are due to reaction with oxidized glutathione which accumulates in haemolysates on storage.

4. Arguments are presented which suggest that the Pep A6 allele codes for a variant poly‐peptide chain in which a cysteine residue has been substituted for a particular arginine residue in the polypeptide chain coded for by the common allele Pep A1. Also that the Pep A6 allele codes for a variant polypeptide chain in which a glutamic acid residue is substituted for a particular lysine residue.
Taste thresholds for phenylthiocarbamide of some population groups: IV. The thresholds of some Australian aboriginal and South Korean subjects
Authors: LUGG J. W. H.
Published: September 2007

1. Thresholds of taste for phenylthiocarbamide (p.t.c.) of fifty Australian aboriginal subjects of the Western Desert group, and of two samples each of fifty South Korean subjects, have been estimated.

2. The thresholds of subjects in all three samples were found to extend over a wide range of values, a few subjects in each possessing extremely high acuities of taste for this substance.

3. The frequency distributions of threshold values were found to have much in common among themselves and also with those obtained earlier with Ainu and Japanese subjects.

4. The new data provide support for the view that the overall distribution cannot readily be interpreted in terms of the classical hypothesis.

5. The data are in reasonable harmony with the view that, in racial origin, the Australian aborigines may have had something in common with the Ainu, but they afford little support for the view that the Australian aborigines (any more than the Ainu) might, appropriately, be classed as essentially ‘proto‐Caucasoid’.
Linkage analysis of the nevoid basal cell carcinoma syndrome
Authors: ANDERSON DAVID E.
Published: September 2007

Twelve pedigrees were informative for linkage between the gene locus for the nevoid basal cell carcinoma syndrome and the ABO, MNS, Rh, P, Kell, Lewis, Ddy, and Kidd blood group marker loci. Linkage with a recombination fraction less than θ= 0.1 was unlikely for any marker locus. The most favourable of the possible loose linkages, that between the syndrome locus and Rh locus, showed a 12% probability of linkage when the prior odds against two autosomel loci being on the same chromosome were taken into account. The other marker loci manifested probabilities averaging about 3%.
Heterozygous advantage and its relationship to increased heterozygote fertility
Authors: OAKES M. W.
Published: September 2007

8. SUMMARY

A simple model has been discussed which takes into account variable family sizes. It has been shown that these greatly influence the equilibrium gene and trait frequencies in a population of births, for a lethal recessive autosomal gene.
A study of faecal porphyrin levels in a large family
Authors: COCHRANE A. L. , GOLDBERG A.
Published: September 2007

A large family in which a case of hepatic porphyria of the porphyria variegata type occurred has been defined and traced, and the faecal porphyrins measured for 160 out of 151 of the living members, The limitations of the present tests in discovering latent cases and in determining the mode of inheritance are discussed.
A ǵene‐countinǵ method of maximum likelihood for estimating ǵenefrequencies in ABO and ABO‐like systems*
Authors: YASUDA NORIKAZU , KIMURA MOTOO
Published: September 2007

A gene‐counting method of maximum likelihood is elaborated for estimating gene frequencies in ABO and ABO‐like systems (more generally phenogram m‐[(m2‐m+2)/2]‐1). The present method has the advantages that the calculations in each iterative cycle is simple and that it is not necessary to invert the matrix, although more iterative cycles are needed than with the scoring method in order to attain to the same level of accuracy. Also, the problem of choosing appropriate trial values is discussed and several numeric examples are worked out.
An investigation of the difference in measured intelligence between twins and single births*
Authors: RECORD R. G. , McKEOWN THOMAS , EDWARDS J. H.
Published: September 2007

Mean V.R. (verbal reasoning) scores recorded in the eleven‐plus examination for Birmingham multiple births in the years 1950‐57 were 95‐7 for 2164 twins and 91‐6 for 33 triplets. The mean for 48,913 single children born in the years 1950‐54 was 100‐1.

The low scores of twins are not explained by differences from single births in their distributions by maternal age and birth order or by birth weight and duration of gestation. They are also not accounted for by the increased risks associated with monozygosity (assessed by comparison of like‐ and unlike‐sex twins) or with delivery of the second twin. Taken together these observations, like the previous ones on single births, suggest that variation in experience before and during birth has little influence on measured intelligence and that the explanation of the large difference between twins and single children must be sought in the postnatal environment.

There were 148 twins whose co‐twins were stillborn or died within 4 weeks after birth; their mean score was 98‐8, only a little lower than that of single births (99‐5) standardized to the maternal age and birth rank distribution of twins. From this evidence it is concluded that the handicapping of twins, reflected in their low verbal reasoning scores, is due to postnatal rather than prenatal influences.

These conclusions are of course based on children who took the eleven‐plus examination and cannot be accepted without reservations for those who did not.
Atypical segregation of human red cell acid phosphatase phenotypes: evidence for a rare ‘silent’ allele Po
Authors: HERBICH J. , FISHER E. A. , HOPKINSON D. A.
Published: September 2007

1. Aberrant segregation of red cell acid phosphatase phenotypes has been encountered in a large family from Vienna.

2. The segregation data suggest the occurrence of a silent allele Po which is associated with either no acid phosphatase or very weak activity.

3. Quantitative analysis supports this interpretation since individuals who appear to be heterozygous for Po exhibit approximately half normal red cell acid phosphatase activity.
The linkage relationships of adenosine deaminase
Authors: COOK P. J. L. , HOPKINSON D. A. , ROBSON ELIZABETH B.
Published: September 2007

The lod scores for seventy‐six families segregating for adenosine deaminase have been estimated. Taken in conjunction with other published lod scores there is a suggestion that ADA may be linked with P.
Fundamental theorem of natural selection in two loci
Authors: ARUNACHALAM V.
Published: September 2007

Expressions for the various genetic effects in a two locus system are given in terms of the genie and marginal gametic frequencies. The lines of argument leading to an exact expression for the change in mean fitness have been indicated. A set of general conditions is given under which the mean fitness is bound to increase every generation. Two multiplicative loci initially in linkage equilibrium are found to possess this increasing property in addition to two additive loci. The premises in which Fisher's fundamental theorem holds in a two locus system are explored and the results of a recent investigation by Ewens are examined.
The analysis of X‐linkage
Authors: EDWARDS J. H.
Published: September 2007

The estimation of the recombination fraction between pairs of loci on the X‐chromosome is discussed, with special reference to the bias from defined forms of ascertainment. Tables are presented which give lods corrected for the common forms of ascertainment.

The interpretation of lods is discussed, and the concept of equivalent observations introduced.

A simple counting system is described for use in close linkage.
ON THE STABILITY OF ALLELIC SYSTEMS, WITH SPECIAL REFERENCE TO HAEMOGLOBINS A, S and C
Authors: PENROSE L. S. , SMITH SHEILA MAYNARD , SPROTT D. A.
Published: September 2007

The conditions of stability for a set of alleles under selection are discussed with special reference to the cases where homozygotes are disadvantageous. The concrete example of alleles which produce different haemoglobins is considered.
EFFECT OF MIGRATION ON SOME GENETICAL CHARACTERS IN SIX ENDOGAMOUS GROUPS IN INDIA
Authors: SIRSAT SATYAVATI M.
Published: September 2007

1. Blood groups OA1A2B, Rh, taste reaction to phenyl‐thio‐carbamide and colour blindness of the red‐green type have been investigated in six migrant endogamous groups in India. Data for blood group MN have been given for two of the six groups.

2. Intra‐ and intergroup variations in these endogamous groups are analysed statistically.

3. A comparative survey of some genetic traits between these migrant groups and the original community is given. Significance of the changes in gene frequencies in the estimation of N is discussed.
A CONTRIBUTION TO THE STUDY OF BIRTH WEIGHT BASED ON AN ITALIAN SAMPLE TWIN DATA
Authors: FRACCARO M.
Published: September 2007

A sample of 237 twin birthB drawn from the records of a maternity clinic has been analysed with regard to birth weight, gestation time, maternal age, parity and survival. The sample was divided into like‐ and unlike‐sex groups. The like‐sex twins have higher mean birth weight and length of gestation with lower mother's age and parity. The correlation of birth weight is 0–765 for like‐sex and 0–792 for unlike‐sex twins. The correlation between male and female twin pairs is 0–826. The number of monozygotic twins in this sample is estimated to be 81 and the estimated weight‐weight correlation for these is 0–815. Comparison has been made possible with similar data on English and Italian twin births published by Karn. The influences of the variables on the survival has been estimated.
LE NOMBRE DE DERMATOGLYPHES DANS UN ECHANTILLON DE JUMEAUX
Authors: LAMY PAR MAURICE , FRÉZAL JEAN , GROUCHY J. de , KELLEY Et Mme J.
Published: September 2007

Le nombre total de dermatoglyphes a étéétudié dans un échantillon de 584 paires de jumeaux MZ et DZ.

Le nombre moyen de crêtes est plus grand chez les garçons que chez les filles. Le nombre de crêtes est supérieur à la main droite.

La distribution du nombre de crêtes a été comparée à une distribution gaussienne ajustée. L'asymétrie (skewness) et la kurtosis des distributions ont été mesurées.

Les coefficients de corrélation ont été calculés dans les différents groupes de couples gémellaires pour les mains séparées et pour les deux mains réunies.

La distribution des différences du nombre de cretes a étéétudiée. L'utilisation de cette valeur a été decrite pour le diagnostic de la zygotie des couples de jumeaux.

L'ensemble des résultats a été discuté du point de vue de la détermination génétique des dermatoglyphes.
The genetic structure of a tribal population, the Yanomama Indians V. Comparisons of a series of genetic networks*,†
Authors: WARD RICHARD H.
Published: September 2007

The model of Cavalli‐Sforza and Edwards was used to investigate the gentic relationships of thirty‐seven Yanomama villages. Using gene frequency data from eleven genetic systems (MNS, P, Rh, Duffy, Kidd, Diego, Lewis, haptoglobin, Ge, PGM, and acid phosphatase), three hierarchical levels of analysis were carried out. The first level involved in the construction of a gentic network, based on genetic distance between villages, for each of three historically defined clusters of villages. Upon comparing the results with ethnohistory there was shown to be a good agreement between the historical development of a cluster and its genetic network.

At the second level of analysis a genetic network was constructed in similar fashion for nineteen villages of the Western Yanomama subgroup, including the three village clusters previously analysed. At this level the integrity of the village clusters was largely maintaine, exceptions being due to specific socio‐political events that resulted in changes of the composition of the village gene pool.

The highest level resulted in the construction of a network for all thirty‐seven villages which showed three of the five geographically defined tribal subgroups as distinct entities. The result of these analyses indicate that the model of Cavalli‐Sforza and Edwards can under certain circimstances be used when the requirements of the midel arenot met, and furthermore that the rate of divergence of human populations may approach a steady state at the level of major tribal subgroupings.
Facial and oral form in sibs of children with cleft lip with or without cleft palate
Authors: ERICKSON J. DAVID
Published: September 2007

There are measurable differences in the average between the form of the palate in sibs of cleft lip cases (with or without cleft palate) and in the general population. Plausibly there are also differences in the shape of the dental arch and the profile of the face. All these differences are in a biologically reasonable direction. But they are not large enough on their own to allow definite identification of families at risk.
A study of parental age effects on the occurrence of fresh mutations for the Apert syndrome
Authors: ERICKSON J. DAVID , MICHAEL COHEN M.
Published: September 2007

A sample of 44 patients with the Apert syndrome was analysed for parental age effects on the occurrence of fresh mutations by using two conceptually similar techniques, one proposed by Smith (1972) and the other devised for the purposes of this study. The results of both analyses confirmed the parental age effect reported by Blank (1960), and was probably due solely to increased paternal age.
Human enolase isozymes: electrophoretic and biochemical evidence for three loci
Authors: PEARCE JENNIFER M. , EDWARDS YVONNE H. , HARRIS HARRY
Published: September 2007

Four major enolase isozymes have been identified in human tissues and are referred to as L, M, ‘intermediate’ and ‘fast’. The M isozyme is the major form found in skeletal muscle and heart extracts and the L isozyme the major form found in extracts of liver and most other tissues The ‘intermediate’ and ‘ fast’ isozymes are most active in brain but are observed as weak components in most other tissues including heart but are not seen in skeletal muscle. It was observed that during fetal development of heart and skeletal muscle the L form declines in activity while the M form increases in activity.

The kinetic properties, heat stabilities and molecular sizes of the main enolase isozymes have been compared. Although the isozymes share many features in common, the ‘fast’ isozyme is more stable when subjected to heat treatment than either the L or M isozymes. Further, the ‘fast’ isozyme retains its dimeric structure and activity in the absence of magnesium ions while the L and M isozymes dissociate and lose activity. The ‘intermediate’ isozyme has properties which are intermediate to those of the L and ‘fast’ isozymes.

The ‘intermediate’ isozyme can be partially dissociated to equal quantities of L and ‘fast’ isozymes by storage at room temperature or by freezing and thawing in the presence of 2 m‐NaCl. Conversely, mixtures of L with ‘fast’ and M with ‘fast’ give rise to an ‘intermediate’ isozyme after freezing and thawing.

Evidence derived from this study has led to the suggestion that three separate gene loci are involved in the determination of human enolase. It is proposed that one of these, ENO1, determines the L isozyme which is the homodimer αα; another locus, ENO2, determines the ‘fast’ isozyme which is the homodimer ββ; and the third locus, ENO3, determines the M isozyme which is the homodimer γγ. The ‘intermediate’ isozyme seen as a strong component in brain and as a weak component in most other tissues is thought to be the heterodimer αβ. In heart however it is probably mainly βγ.
The social effect of Huntington's Chorea on reproductive effectiveness
Authors: WALLACE D. C.
Published: September 2007

An attempt has been made to account for the observed departures from a model of a simple single‐locus inheritance in Huntington's Chorea. It is postulated that an indirect effect of the abnormal allele lies in its social effects on individuals in the family group whether they bear the allele or not. This acts by influencing their mate‐finding and reproductive behaviour so as to produce the observed statistical anomalies.
The frequency in Japanese of genetic variants of 22 proteins: IV. Acid phosphatase, NADP‐isocitrate dehydrogenase, peptidase A, peptidase B and phosphohexose isomerase
Authors: TANIS R. J. , UEDA N. , SATOH C. , FERRELL R. E. , KISHI‐MOTO S. , NEEL J. V. , HAMILTON H. B. , OHNO N.
Published: September 2007

This paper presents the results of an electrophoretic survey of approximately 4000 individuals from Hiroshima and Nagasaki for four erythrocyte enzymes: isocitrate dehydrogenase, pepti‐ dase A, peptidase B, and phosphohexose isomerase. Also reported are the results for erythrocyte acid phosphatase for a subset of these individuals. The frequencies for the ACPf and ACPF alleles of the ACP, locus are in agreement with previously reported results from Japanese populations. Rare variants of ICD, PEPA, PEPB and PHI occur with frequencies varying from 0.25 to 7.2 per 1000 determinations. The relatively high frequency of the PHI 4RIR1 variant and some unusual features involving the effect of reducing agent on the electrophoretic pattern behaviour of some of the rare PHI variants detected during this study are discussed.
Satellite associations of human acrocentric chromosomes identified by trypsin treatment at metaphase
Authors: ARDITO G. , LAMBERTI L. , BRØGGER A.
Published: September 2007

In the present work 2526 metaphase plates were prepared from 28 normal adult individuals (123 and 169) and then treated with the trypsin method in order to recognize the acrocentric chromosomes involved in the satellite associations.

From our data it can be inferred that while the pattern of association of D‐D, D‐G and G‐G groups seems to be random, there exists some preferential association, particularly between the pairs 13–14, 13‐13, 13–21 and 21‐21.

This non‐random participation of the acrocentric chromosomes could fit with the new con‐ cepts of interphase/metaphase organization of the chromatin fibre.

The authors wish to thank Professor Chiarelli for helpful suggestions in preparing the present work.
A new model for measuring breeding genetic distance: II. Polygenic traits
Authors: CARLSON ROGER , WELCH Q. B.
Published: September 2007

The breeding genetic distance measure of a single locus (Carlson & Welch, 1977) is extended to polygenic traits. For two populations with means 5 and 2,8(5,2) is defined as thesize of thelargest subpopulation with mean 2 which can be (artificially) selected from a population with mean F. The distance is defined as 1 ‐ O(5, Z). It is shown that 8(X, 2) can be calculated from truncation selection and formulas (two loci) and tables (three and four loci) are given. Values for 8(5,2) based on a normal approximation are seen to be adequate for most cases. The measure is applied to a data example (human skin colour) and to a discussion of the idea of 'genetic inertia'.

This research was supported in part by the Child Health and Development Studies, School of Public Health, University of California, Berkeley, CA 94720, NICHHD Grant HD 07256.
Testing a single dominant gene theory without an accepted criterion variable
Authors: GOLDEN R. R. , MEEHL P. E.
Published: September 2007

In testing a single dominant gene hypothesis we often are not able directly to measure the inherited trait. A typical situation is one where we only have one or more fallible indicators of the trait under study. The statistica1 method proposed requires that we have measurements on several such indicators for each of the parents of probands known to possess the trait.
Diabetes mellitus among first‐ and second‐deǵree relatives of early onset diabetics
Authors: DEGNBOL BJARNE , GREEN ANDERS
Published: September 2007

This study is based on a material consisting of all first‐degree relatives and a group of second‐ degree relatives (all nieces and nephews) of 187 propositi affected by early onset (i.e. at or prior to 20 years of age) diabetes mellitus, diagnosed before 1946.

The incidence of diabetes among the different groups of relatives is expressed as the risk of developing the disease at specified ages.

It is concluded that the risk of siblings or children of early‐onset diabetics developing the same disease is about ten times that of a normal population chosen for comparison, whereas the risk of siblings developing diabetes later in life does not differ from this normal population. On the basis of the data presented here, combined with reanalyses of previously published data from other authors, it is concluded that early onset and late onset diabetes cannot have an identical genetic background.

The initial study was proposed by Professor Mogens Hauge, M.D., to whom we are greatly indebted for his valuable help through all phases of the study. We would like to thank Dr Jacob E. Podsen, M.D., for giving access to the files of the Steno Memorial Hospital and for valuable advice concerning clinical problems.

We would also like to thank the Danish National Registries and especially Miss Julie Konow, Registry of the Municipality of Copenhagen. During the initial study B. D. received a scholarship from the University of Copenhagen, and the follow‐up study has been made possible by support from the Danish Diabetic Association (Landsforeningen for Sukkersyge) and Dr. med. Erik Garde og Elisabeth Gardes Legat.
A note on assortative mating, linkage and genotypic frequencies
Authors: Wilson S. R.
Published: September 2007

It is shown that in the equilibrium position with respect to the assortative mating process given by Fisher's (1918) model, the population is in linkage disequilibrium, contrary to a result given by Vetta (1975).
Polymorphism of red cell enzymes in Alaskan ethnic groups
Authors: SCOTT EDWARD M. , WRIGHT RITA C.
Published: September 2007

1. Gene frequencies of esterase D, glyoxalase I and uridine monophosphate kinase in Alaskan populations were determined.

2. Improved methods for demonstrating phenotypes of glyoxalase I and uridine monophosphate kinase are presented.

3. Rare variants of adenylate kinase (AK1) and diaphorase (DIA) were found. One of the AK1 variants is new.

4. Gene frequencies were notably diverse within major ethnic groups. This variability was consistent with a population structure composed of small groups that were relatively isolated from one another.
Asymptotic behaviour of the mean of a continuous phenotypic diffusion process with overlapping generations
Authors: WILSON S. R.
Published: September 2007

The equilibrium position is determined for the phenotypic distribution of a continuous characteristic in a population which reproduces both randomly and assortatively, and wherein generations are overlapping. It is shown that the major assortative mating models so far proposed for continuous traits are not particularly satisfactory.
Differences in genetic stability between human cell lines from patients with and without lymphoreticular malignancy
Authors: POVEY S. , JEREMIAH S. , ARTHUR E. , STEEL M. , KLEIN G.
Published: September 2007

Isozymes determined by 11 loci have been examined in 137 human lymphoblastoid lines of various origins with a view to determining their phenotypic stability in culture. Lines of normal origin are stable and at these loci are phenotypically identical to the individuals from whom they are derived. Lymphomas and some lines from patients with leukaemias show a tendency to increased apparent homozygosity, presumably resulting from loss of expression of one or other allele during culture. Taken together with the cytogenetic evidence this suggests that progressive loss of functional parts of the genome with time in culture is a characteristic of lines derived from malignant lymphoid cells.
Gene dosage and susceptibility to insulin‐dependent diabetes
Authors: SPIELMAN R. S. , BAKER L. , ZMIJEWSKI C. M.
Published: September 2007

1. All members of 33 families in which two or more sibs have insulin‐dependent diabetes mellitus (IDDM) were HLA‐typed. The results strongly support the hypothesis that, closely linked to the HLA region, there is a locus (S) for susceptibility to IDDM. We use Sd for alleles at this locus which confer susceptibility to disease, and Sa for all other alleles.

2. Published prevalence (recurrence) rates for relatives of an IDDM proband, which are essential for the analysis, are reviewed critically, and a new estimate of prevalence at age 30 in the general population is calculated from published data.

3. The analysis allows for greater risk (penetrance) of the genotype SaSd (two doses of Sd) than of SaSd (one dose of Sd) and for recombination between the HLA region and S. With either our own data on 26 affected sib pairs or a much larger sample assembled by pooling with published data, the maximum‐likelihood estimate of the two‐dose penetrance is 71%, of the one dose penetrance 6·5%. The hypothesis of differential penetrance according to gene dosage provides a significantly better explanation than either simple dominant or simple recessive inheritance.

4. Estimates of the recombination fraction between HLA and S are very sensitive to the proportion of affected sib pairs sharing neither HLA haplotype, which varies considerably among the samples pooled. With the pooled data the recombination fraction is estimated as 3%, but in view of the strong associations with particular HLA alleles seen in population data, this should probably be considered an upper limit.
Genetical and biochemical studies on human phosphoserine phosphatase
Authors: Moro‐Furlani A. M. , Turner V. S. , Hopkinson D. A.
Published: September 2007

1. Phosphoserine phosphatase (PSP), specific for D‐and L‐phosphoserine, has been identified in all human tissues.

2. PSP shows no activity towards phosphorylated serine residues in phosphoproteins.

3. In most tissues, PSP consists of a single major isozyme, probably determined by a single autosomal locus.

4. Other isozymes, identified quite frequently in such post‐mortem tissues as kidney and liver, appear to be due to post‐translational modification, the mode of which has not yet been identified.

5. Two different rare electrophoretic variants have been identified in 1 % and 0.25 % of 378 post‐mortem kidneys (PSP 2‐1 and PSP 3‐1 respectively).

6. The three‐banded isozyme pattern of the rare variants suggests PSP is a dimeric enzyme. From gel filtration results the subunit molecular size is 26 000 daltons.

7. Homologous PSP isozymes have been detected in primates with similar electrophoretic mobility to that of the human enzyme.
Estimating the origins of human trisomies and triploids
Authors: THOMSON R.
Published: September 2007

8. SUMMARY

A counting method has been developed to estimate the probabilities of origin of trisomy and triploidy. A method for finding the standard errors of the estimators has also been developed. It has also been shown that this counting method is equivalent to the method of maximum likelihood. The method extends to situations representable by ‘tree diagrams’.
Statistical methods for assessing linkage disequilibrium at the HLA‐A, B, C loci
Authors: KARLIN S. , PIAZZA A.
Published: September 2007

A number of standard and new statistics for measuring linkage disequilibrium are introduced applicable to any multilocus system. Included are the usual pairwise gametic disequilibrium function, D, the Lewontin disequilibrium index, DL, a Euclidean disequilibrium distance, DE, a hierarchy of stratified linkage disequilibrium functions (e.g. a pairwise disequilibrium value conditioned on the value of a third locus) and an averaged conditional disequilibrium expression, DW. Various global second order measures of disequilibrium are proposed partly based on contingency table statistics and weighted pairwise disequilibrium quantities. A non‐parametric (stochastic) comparison assessment for global linkage disequilibrium is also developed. These measures are compared and contrasted at the HLA‐A, B, C gene complex for a sample of 2000 haplotypes from a healthy Austrian population.

Several results from applying these methods include: (1) Of the various pairwise disequilibrium measures examined, D, DE and DW correlated very closely with each other but differ from DL. (2) The ‘third‐order interaction’ between two loci conditional on an allele (or group of alleles) at a third locus indicated that HLA‐AB maintains the classical disequilibrium pairings only for conditioning on CX (the blank allele at locus C), and they mostly disappear for conditioning on C1 to C5. (3) Subpopulations involving C3 or C4 alleles exhibit the significant new combinations A33B17 and A2B15. (4) The B, C loci have a higher total linkage disequilibrium than A, B and A, C; more than expected by mapping distance relationships. (5) The total linkage disequilibrium was significantly larger for conditioning on CX compared to CX (non‐CX), but smaller for the population conditioned by {C3, C4}.

A number of interpretations of the results with respect to heterogeneity classifications of populations are discussed.
Research on molecular mechanisms ofMcArdle's disease (muscle glycogen phosphorylase deficiency)
Authors: DAEGELEN‐PROUX D. , KAHN A. , MARIE J. , DREYFUS J.‐C.
Published: September 2007

McArdle'@ disease is due to the lack of activity of muscle glycogen phosphorylase. We investigated the presence of an inactive protein by two techniques:

(a) tridimensional protein maps, using a modification of the originalO'Farrell technique allowing location of phosphorylase.

(b) Purification of enzyme from crude muscle extracts, using an immunoaffinity micro‐chromatographic procedure.

Protein maps of three patients were obtained. No protein was detected at the normal (97 K) position of phosphorylase but 70 and 60 K spots were visible. Results of enzyme purification by immunoaffinity were negative for one patient, whereas a small band of phosphorylase‐like material was detected in the other. Our results confirm the molecular heterogeneity of the disease.

We think such methods might be useful for investigating other genetic diseases.
Biochemical characterization of the genetic variants of human phosphoglycolate phosphatase (PGP)
Authors: TURNER V. S. , HOPKINSON D. A.
Published: September 2007

Phosphoglycolate phosphatase (PGP) exhibits a wide range of activities in normal human red cells.

Analysis of blood from 57 individuals of known PGP phenotype revealed no correlation between enzyme activity, electrophoretic phenotype or 2,3‐DPG concentration. Neither was there evidence of variation in Km, heat stability, pH optimum or molecular size among the various electrophoretic phenotypes. However, human red cell PGP exhibits high (0‐24 mM) and low (0‐05 mM) Km values for phosphoglycolate irrespective of phenotype and this requires further analysis.
Glucose dehydrogenase polymorphism in man
Authors: KING J. , COOK P. J. L.
Published: September 2007

An isoelectric focusing method for human GDH is described which reveals seven GDH phenotypes. Family studies demonstrate that the variation is genetically determined by three alleles at an autosomal locus with gene frequencies GDH1=0723, GDH2= 0‐194, GDH3= 0083. Linkage analysis shows that GDH may be closely linked to PGD on chromosome 1.
Phenotypically normal individuals with an inversion (X) (p22q13) and the recombinant (X), dup q
Authors: BUCKTON K. E. , NEWTON M. S. , COLLYER S. , LEE M. , SPOWART G. , SEABRIGHT M. , SANGER R.
Published: September 2007

Two families are described in which there is an inv(X) (p22ql3) which has been transmitted for three generations. In one family (K482), no recombinants have been recovered and the inversion can be traced to a female born in 1839. In the second family (K491), a recombinant (X), dup q, has been recovered in a normal fertile woman. In both families the inverted X appears to be carrying the Xg allele. Despite extensive family studies no common ancestor has been found for the two families.

The pattern of DNA synthesis has been studied in those individuals who are karyotypically 46, X, inv(X) (p22ql3) and 46, X, rec(X)dup q, inv(X) (p22ql3); the selection of the abnormal as the late synthesizing X chromosome is random in the former and total in the latter. In some cells the two long arms of the recombinant X chromosome showed asynchrony of DNA replication.
Cytogenetic recognition of chromosomal duplication [dup(l)(p31.4 ‐→ p22.1)] and the detection of three different alleles at the PGM1 locus
Authors: COUSINEAU A. J. , HIGGINS J. V. , HACKEL E. , WATERMAN. D. F. , TORIELLO H. , CARLILE P. A. , COOK P. J. L.
Published: September 2007

A boy with a duplication of the region lp31.4 → 1p22.1 has the PGM1 phenotype 2+2‐l+.
On determining the parental origins of homologous chromosomes
Authors: CAROTHERS A. D.
Published: September 2007

Given sets of measurements on a pair of homologous chromosomes from an individual and both his/her parents, methods for estimating the probability that the individual has inherited any particular two of the four parental homologues are discussed and compared. A new method with several desirable properties is proposed.
Factors influencing age at onset and duration of survival in Huntington's chorea
Authors: NEWCOMBE R. G. , WALKER D. A. , HARPER P. S.
Published: September 2007

Life table techniques permit a more appropriate assessment of the effect of such factors as sex, line of transmission, birth cohort and kindred upon the age at onset and the duration of survival subsequent to onset in Huntington's chorea.