bluuebunny/crossref_metadata_2025 huggingface dataset:
Heiǵht and weiǵht of a United Kinǵdom adult population with a review of anthropometric literature
Authors: MONTEGRIFFO V. M. E.
Published: September 2007

Height and weight were measured in a United Kingdom population during 1964–66. Comparisons were made with previous studies in the United Kingdom and showed an increase in weight for males but little change in females. Both sexes are lighter than American figures. Increase in weight was most marked in the forties for men and in the fifties for women.

Comparison of height showed that the subjects in the present studry were taller than those in other studies. Growth in height continues ove the age of 25.

The percentage number of subjects overweight, in relation to the American desirabes Weights, was calculated for males and females.

A review of anthropometric data is included.
The Ensu scoring system in genetic counselling
Authors: MURPHY E. A.
Published: September 2007

As a device for systematically computing the posterior probability that a woman is the carrier of an X ‐linked recessive disorder, a new scoring system has been devised. The information provided by a woman and her male descendants is condensed into an equivalent number of normal sons. Thus if the likelihood ratio of her and her descendants, supposing her a carrier, to that supposing her wild‐type is expressible as (1/2)a, the score is a Equivalent Normal Son Units (Ensu). The method, designed in the first place to deal with strictly recessive disorders, is readily extended to the case where the carrier state can be identified with greater or less certainty and the case where other pertinent probabilistic information such as linkage data is available. Tables and a graph are provided which should allow three‐digit accuracy, sufficient for all practical purposes.
Statistical inference on segregation ratios for D/G‐translocations, when the families are ascertained in different ways
Authors: STENE JON
Published: September 2007

The present paper discusses the estimation of the risk rates for D/G‐transloeation carriers of having offspring which are either (1) mongols or (2) phenotypically normal D/G‐translocation carriers. The analysis is based upon 38 families, most of them taken from the literature; the others are personal communications. For all the sibships in the material only one of the parents is a carrier. The families are ascertained through mongols in different ways which may be classified according to the number of mongols through which the family is ascertained, whether they are in the same or different sibships, and whether the carrier parents are of the same or different sex. There are two levels of observations: (1) the phenotypical level and (2) the cytological level, depending on whether an individual has been investigated cytologically or not. At the phenotypical level it is possible to decide if a person is a mongol or phenotypically normal. At the cytological level it is possible to decide if a person is a D/G‐translocation mongol, phenotypically normal D/G‐translocation carrier or karyotypically normal. Several persons in the families have died or are unavailable for cytological investigations, and the medical diagnosis concerning mongolism has been improved during the last decades.

In separate papers (Stene, 1970a, b) methods of handling materials of this kind have been developed. These methods are applied in the present paper.

No inhomogeneities of segregation ratio are found in the offspring of female carriers, but segregation ratios in mongols and non‐mongols vary in the offspring of male carriers. The segregation ratio in the offspring of carrier males is less than in the offspring of carrier females. The segregation ratio or risk rate for female carriers is estimated. Owing to the detected inhomogeneity a corresponding estimate cannot be given for male carriers. For the conditional segregation of phenotypically normal individuals in translocation carriers and karyotypically normal individuals no such inhomogeneity is detected. This conditional segregation ratio is found to be equal in the offspring of carriers of both sexes, but is not found to be different from the ratio 1/2. A method suggested by Hamerton (1966, 1968) is shown to be approximate and biased.
A statistical study of the intrauterine selection factors related to the ABO system
Authors: PERITZ ERIC
Published: September 2007

Foetal death rates by ABO‐mating type are presented for a Caucasian population. The rates are based on foetal deaths occurring while the women were participating in the Child Health and Development Studies, Oakland, California, as well as on data elucidated by interview. The rates for mating‐type Ox A were consistently higher than those for the other mating types. A‐O incompatibility is the most plausible interpretation of this finding.
The number of pregnancies prior to the birth of twins
Authors: SELVIN STEVE
Published: September 2007

Data from the birth certificates of twins born in New York City showed that the number of previous pregnancies differs significantly when mothers of like‐sex twins are compared to mothers of unlike‐sex twins. Also the number of previous pregnancies of mothers of male‐male twins differed significantly from that of mothers of female‐female twin pairs. The average number of previous pregnancies was adjusted so that the average maternal age was the same for each comparison. This adjustment produced no substantial differences in the original observations.
THE RELATION OF THE PIGMENT TRICHOSIDERIN TO HAIR COLOUR
Authors: BARNICOT N. A.
Published: September 2007

1. A sample of 118 hair specimens from young adult British males, comprising a wide range of red and non‐red colours, has been examined for trichosiderin by acid extraction.

2. Statistical indices of redness, derived from spectrophotometric reflectance curves, and approximate measures of the amount of trichosiderin in the acid extracts, have been used to study the relationship between the yield of this pigment and hair colour.

3. It is concluded that the higher ranges of trichosiderin yield are obtained almost exclusively from definitely red hair; but that some red specimens yield only small amounts or none of this pigment. Small amounts appear to be present in many red‐brown and in some dark brown specimens.

4. The relevance of the findings to current interpretations of the genetics of red hair colour is discussed.

I wish to thank Prof. L. S. Penrose, who first interested me in this problem, for much useful discussion during the work, and Dr S. P. Datta for making pH determinations on the glass electrode. Mr John Welch gave technical assistance throughout the investigation.
MYOPATHIE ET DALTONISME
Authors: FRÉZAL PAR JEAN , GROUCHY J. DE , LAMY MAURICE , POGNAN MME C.
Published: September 2007

Les auteurs décrivent une famille qui comporte des myopathes et des daltoniens. lis discutent la variete clinique de la myopathic et son mode de transmission héréditaire.
TASTE‐THRESHOLDS FOR PHENYLTHIOCARBAMIDE OF SOME POPULATION GROUPS
Authors: LUGG J. W. H.
Published: September 2007

1. The thresholds of taste for phenylthiocarbamide of samples of fifty subjects each of the Kintak Bong division of the Negritos and the Semai division of the Senoi have been estimated. The distributions of the threshold values, corrected for the effects of age and sex to the basis of the 32‐year‐old male as standard'subject, have been examined.

2. The so‐callednon ‘non‐taster’:‘taster’ ratios were found to be 0–18:0‐82 for the Kintak Bong Negritos and 0–04:0‐96 for the Sēmai Sēnoi, a difference of appreciable statistical significance. A difference of appreciable statistical significance was found also between the variances of the ‘taster’ fractions.

3. The distributions of values for these samples were compared, also, with those for samples of other ethnic groups, in respect of the ‘non‐taster’:‘taster’ ratios, the means of the ‘taster’ fractions, and the variances of these fractions. There appears to be a close correspondence between the distributions for the Sēmai Sēnoi and the southern Chinese. Comparison of the Kintak Bong Negrito material with that obtained by Barnicot (1950) for a group of African subjects failed to establish any recognizable affinity between these two ethnic groups.
THE LOG LIKELIHOOD RATIO TEST (THE G‐TEST)
Authors: WOOLF BARNET
Published: September 2007

SUMMAEY

The theoretical basis of the log likelihood ratio test (the G‐test) is described, and instructions and tables are given for its use as a test of heterogeneity in contingency tables. There is a marked saving in computation time over the customary Karl Pearson test.

It is a pleasure to thank Miss Mary Wheeler and Miss Madge Wight for the major part of the computations.
BLOOD GROUPS and HAEMOGLOBIN VARIANTS IN NIGERIAN (YORUBA) SCHOOLCHILDREN
Authors: GARLICK J. P. , BARNICOT N. A.
Published: September 2007

1. The sickling frequency and incidence of haemoglobin variants as determined by paper electrophoresis are reported for a sample of Yoruba schoolchildren in the 5‐9‐year‐old range.

2. The incidence of malarial parasitaemia is found to be high, but no difference is found between sicklers and non‐sicklers in this respect.

3. Sicklers are on average a little taller and heavier than non‐sicklers, but the difference is not statistically significant.

4. The frequencies of the Lutheran, Henshaw, A1A2BO and MN blood groups of the children are reported.

The work was financed from a grant by the Rockefeller Foundation. We are indebted to Dr A. E. Mourant of the Blood Group Reference Laboratory for the blood‐grouping sera, to the Department of Medicine, University College, Ibadan, in whose laboratories the work was done, for their hospitality, and to the Director of Education, Western Region, Nigeria, for permission to conduct the survey.
Fisher's Malthusian parameter and reproductive value
Authors: PRICE GEORGE R. , SMITH CEDRIC A. B.
Published: September 2007

An explanation is given of Fisher's ‘Malthusian parameter’m (= Lotka's ‘rate of increase’) and ‘reproductive value’v. It is pointed out that there is a flaw in fisher's mathemathics due to his neglect of changes in population charactersitcs under natural selection, with the result that m equals the logarithmic rate of change of the total reproductive value of a population. A modified definition is given that does have this property. however, for practical uses in population genetic it may be better to follow Fisher's original definition despite the flaw in them.
The effect of zygosity on the birth weight of twins
Authors: CORNEY G. , ROBSON ELIZABETH B. , STRONG S. J.
Published: September 2007

Birth weight has been analysed in a series of 528 unselected, newborn twins pairs of known zygosity, in relation to sex, placentation, duration of gestation, maternal age and parity. Monozygotic twins weigh less than dizygotic twins, even when the named variables are allowed for. Possible reasons for this are discussed.
Linkage data on red cell acid phosphatase from family studies
Authors: MACE MARGARET A. , COOK P. J. L. , ROBSON ELIZABETH B.
Published: September 2007

This paper presents an analysis of the linkage relationships of red cell acid phosphatase, ACP1, with 36 other loci. No suggestion of linkage was found in two earlier reports, Conneally et al. (1965) and Ritter et al. (1971).
DNA repair and frequency of X‐ray and u.v.‐light induced chromosome aberrations in leukocytes from patients with Down's syndrome
Authors: LAMBERT B. , HANSSON K. , BUI T. H. , FUNES‐CRAVIOTO F. , LINDSTEN J. , HOLMBERG M. , STRAUSMANIS R.
Published: September 2007

DNA‐repair and the frequency of chromosome aberration after u.v. and X‐ray irradiation was studied on leukocytes from patients with Down's syndrome.

The u.v.‐induced DNA‐repair synthesis was followed by the incorporation of [3H]thymidine in the presence of hydroxyurea. Similar dose‐response curves were estabIished for Down's syndrome leukocytes and controls. The cells from patients with Down's syndrome incorporated 70–75 % of the activity of control cells at the various doses (32–196 erg/mm.2). This difference was significant for the two highest u.v.‐doses (P < 0.01). The yield of dicentric chromosomes after X‐ray exposure (150 rad.) was 35% higher in Down's syndrome leukocytes than in the control cells (P < 0.001).
Linkage between α‐fucosidase and the rhesus blood group
Authors: CORNEY G. , FISHER R. A. , COOK P. J. L. , NOADES J. , ROBSON E. B.
Published: September 2007

Family studies show that αFUC is closely linked to Rh and confirm that the locus for α‐L‐fucosidase is on chromosome 1.
Relative importance of the effect of family environment and heredity on obesity
Authors: HARTZ ARTHUR , GIEFER ELDRED , RIMM ALFRED A.
Published: September 2007

In a study using data from 254 families with 646 non‐biologically related children and 10337 families with 25654 biologically related children an analysis of variance technique was used to evaluate the effect of family environment and heredity for children ages 4–11. Family environment accounted for 32% of the variation in obesity if all children were used and more than 39% of the variation in obesity using subgroups of children similar with respect to sex and age. The estimate of heritability was quite low, only 11%. These results suggest that family environment, which consists of such things as parental example and child rearing techniques, has an important effect on childhood obesity.
Selection and mutation at an X‐linked locus
Authors: NAGYLAKI THOMAS
Published: September 2007

The most general mutation‐selection model with discrete non‐overlapping generations is formulated for a multiallelic X‐linked locus, The difference equations for the gene frequencies, though dependent on the female genotypic proportions, are shown to have a simple form. If mating is random and the rates at which various unions produce females may be expressed as products of factors depending on the male and female parental genotypes, then the female zygotic frequencies are proved to be generalized Hardy‐Weinberg proportions with respect to the male and female gametic frequencies. As the main application of the formalism, assuming only that mutation is much weaker than selection, the total frequencies of mutant alleles in males and females at equilibrium are related to the mutation rates and mean selection coefficients in the two sexes.
The genetic and biochemical properties of the D‐amino acid oxidases in human tissues
Authors: BARKER R. F. , HOPKINSON D. A.
Published: September 2007

1. Two distinct forms of oxidases catalysing the oxidative deamidation of D‐α‐amino acids have been identified in human tissues: D‐amino acid oxidase (DAMOX) and D‐aspartate oxidase (DASOX).

2. The enzymes differ in their electrophoretic properties, tissue distribution, binding with flavine adenine denucleotide, heat stability, molecular size and possibly in subunit structure.

3. Neither enzyme exhibits genetic polymorphism in European populations, but a rare electrophoretic variant phenotype (DASOX 2‐1) was identified which suggests that the DASOX locus is autosomal and independent of the DAMOX locus.
Inbreeding effects on human reproduction in Tamil Nadu of South India
Authors: RAO P. S. S. , INBARAJ S. G.
Published: September 2007

A prospective investigation of inbreeding effects was carried out during 1969‐74 on representative samples from rural and urban populations of Tamil Nadu in southern India. Altogether, 14243 pregnancy terminations were observed. Forty‐seven per cent of the rural women and 29% of urban were consanguineously married; in 80% or more of these marriages the spouses were first cousins or more closely related.

The differences between the consanguineous and non‐consanguineous marriages were studied with respect to total foetal loss rates, neonatal, infant and perinatal and extended first‐year mortality rates; in these cases the differences were quite small and unlikely to have practical importance, though some attained statistical significance. Differences for duration‐specific foetal loss, sex ratio and incidence of congenital malformations were not statistically significant. When studied alternatively in terms of the regression of the incidence rate on the inbreeding coefficient, again most regression coefficients were mostly positive but did not reach the 0.05 significance level.

Taking into account the background of the population studied, the methodology adopted, and the lack of significant patterns by type of parental consanguinity, the most reasonable conclusion is that the continued practices of consanguinity over several generations have narrowed the differentials of human reproduction and of its wastage among various types of marriages based on parental consanguinity.
Inbreeding effect on precocious mortality in Japanese communities of Brazil
Authors: FREIRE‐MAIA N. , TAKEHARA N.
Published: September 2007

Data on precocious mortality (from abortions up to the age of 20) are presented for three Japanese communities in Brazil. The inbreeding load (B≅1.5) is estimated on the basis of these data. B/A lies between 7 and 30. Three general working hypotheses are presented.
Estimation of the variance components for dermal ridge count
Authors: SPENCE M. ANNE , WESTLAKE J. , LANGE K.
Published: September 2007

Refinements of the scoring algorithm to estimate variance components from pedigree data are developed. Subsequent to these modifications, heritability estimates were readily obtained from data for over 50 traits, including total finger ridge count reported here. A significant contribution to the total variance of ridge count could be attributed to the effects of dominance, a finding not previously reported for this dermatoglyphic trait.
A cytogenetic study of spontaneous abortions in Hawaii
Authors: HASSOLD T. J. , MATSUYAMA A. , NEWLANDS I. M. , MATSUURA J. S. , JACOBS P. A. , MANUEL B. , TSUEI J.
Published: September 2007

Cytogenetic results on 234 spontaneous abortions showed 109 (46.6 yo) to have a chromosome abnormality. The results were analysed separately for the four major ethnic groups of which the population was composed and no differences in the proportion or types of chromosome abnormalities seen. The results of this survey were found to be very similar to other major published surveys and it therefore appears, on present evidence, that neither geographic location nor racial group affects the frequency of chromosome abnormalities seen among human spontaneous abortions. The sex ratio among the chromosomally normal and abnormal abortuses and the effect of parental and gestational age were discussed.

This work was supported by the National Foundation March of Dimes Grant 6–47 and the Spencer Foundation.

Wo are grateful to Dr T. Kobara and the staff of the Pathology Department of the Kapiolarii Children's Medical Center, to Mrs B. Tanaka and Mrs C. Earnshaw and the nursing staff of the Operating Room, and to Mrs H. Arnold and the nursing staff of the Gynmcological Services. Without their continued help and co‐operation the project would not have been possible. We would also like to thank Miss Shirley Yee of the Population Genetics Laboratory, University of Hawaii, for her help with the statistical analysis.
Differential inhibition of the products of the human alkaline phosphatase loci
Authors: MULIVOR RICHARD A. , PLOTKIN LARRY I. , HARRIS HARRY
Published: September 2007

1. Inhibition studies have been carried out on a series of ALPs derived from liver, bone, kidney, placenta and intestine, using L‐phenylalanine, L‐homoarginine, L‐leucine, L‐leucyl‐ glyoyl‐glycine and L‐phenylalanyl‐glycyl‐glycine as inhibitors.

2. No differences between liver, bone and kidney ALPs with any of the inhibitors were observed.

3. L‐phenylalanine and L‐homoarginine give a major degree of discrimination between liver/ bone/kidney ALP on the one hand, and placental and intestinal ALPs on the other. L‐leucyl‐glycyl‐glycine and L‐phenylalanyl‐glycyl‐glycine give a major degree of discrimination between placental ALP on the one hand, and intestinal ALP and liver/bone/kidney ALP on the other. L‐leucine discriminates between the three classes, but to a lesser degree. Minor degrees of discrimination between placental and intestinal ALPs occur with L‐phenylalanine and L‐homo‐ arginine and between intestinal and liver/bone/kidney ALPs with L‐leucyl‐glycyl‐glycine and L‐phenylalanyl‐glycyl‐glycine. By using an appropriate combination of inhibitors the ALPs can be separated into three clearly distinct categories: placental, intestinal and liver/bone/kidney.

4. The six common placental ALP phenotypes as defined by electrophoresis show identical inhibition profiles with the series of inhibitors. The same profile was found for several rare electrophoretic variants. However, two rare electrophoretic variants (P‐1 87 and P‐92) each encountered once in a sample of 225 placentae, showed significantly deviant inhibitions with the various inhibitors and also differed from each other. From the electrophoretic patterns, both of these rare phenotypes appear to be heterozygotes. P‐I 87 probably corresponds to the so‐called D‐variant previously described. P‐92 represents a, new type of placental ALP variant with an aberrant inhibition profile. In both cases the par‐ ticular rare allele concerned evidently alters the primary structure of the enzyme so that it has an altered electrophoretic mobility and also an altered sensitivity to inhibition for each of the different inhibitors.

5. Treatment of the various ALPs with neuraminidase to remove sialic acid residues does not affect their inhibition characteristics or activities.

This work was supported by grants from the American Cancer Society, no. VC‐231; the National Cancer Institute, DHEW no. CA‐20296; the National Science Foundation, no. PCM76‐82997
The origin of human triploids
Authors: JACOBS P. A. , ANGELL R. R. , BUCHANAN I. M. , HASSOLD T. J. , MATSUYAMA A. M. , MANUEL B.
Published: September 2007

the data using a maximum‐likelihood method was that 66.4 yo of the triploids were the result of dispermy, 23.6 % the result of fertilization of a haploid ovum by a diploid sperm formed by failure of the first meiotic division in the male and 10 % the result of a diploid egg formed by failure of the first maternal meiotic division. The possible sources of error inherent in the technique me reviewed and our results compared with previously published data.

This work was supported by a grant from the Spencer Foundation, by grant no. 6–47 from the National Foundation and by grant no. HD 07879 from the National Institutes of Health. We are extremely grateful to Miss Shirley Yee of the Population Genetics Laboratory, University of Hawaii, for providing the maximum‐ likelihood estimates, and we thank Dr Kobara and the staff of the Pathology Department, the nursing staff of Kapiolani Hospital and Dr Julia Tsuei of the Department of Obstetrics and Gynecology without whose help in collecting the specimens the present study would have been impossible.
The generalized sib pair IBD distribution: its use in the detection of linkage
Authors: Suarez B. K. , Rice J. , Reich T.
Published: September 2007

General expressions for the distribution of identity by descent (IBD) scores at a marker locus have been derived given neither, one or both sibs affected with a disorder determined by a linked trait locus with arbitrary gene frequency and penetrance vector. It is shown that the distribution of IBD scores depends only on the additive and dominance variances and the population prevalence of the disorder.

A one‐sided test is suggested as an appropriate means of statistically testing the hypothesis that the recombination fraction is significantly less than. This sib pair approach is designed primarily to detect the presence of a critical disease susceptibility locus but when the assumptions of the incompletely penetrant single locus model are correct the methodology proposed here results in consistent estimates of the recombination fraction. The affected sib pair methodology seems especially suited to traits determined by single loci with non‐Mendelian transmission.

We wish to express our gratitude to Mr P. Van Eerdewegh and to Drs P. Fishman and S. Hodge for their many helpful comments and criticisms.

This work has been supported by HEW grants MH 25430, MH 22521, MH 14677, MH 13002 and AA 00209.
Ancestral inference: I. The problem and the method
Authors: Thompson E. A. , Cannings C. , Skolnick M. H.
Published: September 2007

A method for inferring the ancestral genotypes for the founders of a population is developed. This method uses the algorithms for the computation of probabilities on pedigrees of arbitrary complexity, developed by Cannings et at. (1978) and implemented by Thompson (19773). When characteristics are simply determined by underlying genotypes the inference problem is simplified, and larger and more complex pedigrees may therefore be analysed. The problem of estimating the allele frequencies to be used in computing prior genotype probabilities for those founders on whom a likelihood function is not required is discussed. The same method allows us to compute extinction probabilities for any combination of original founder genes; these probabilities are interesting parameters of pedigree structure, which, since they relate to the actual genes present in a population, help to provide a clearer understanding of observed distributions of autosomal traits.

I am grateful to Dr A. W. F. Edwards and T. Beaty for comments on an earlier draft.
Segregation of ABO, AK1 and ACONS in families with abnormalities of chromosome 9
Authors: COOK P. J. L. , ROBSON E. B. , BUCKTON K. E. , SLAUGHTER C. A. , GRAY J. E. , BLANK C. E. , JAMES F. E. , RIDLER M. A. C. , INSLEY J. , HULTÉN M.
Published: September 2007

Some families with abnormalities of chromosome 9 have been combined with others from the literature to show that AK1 and ABO must lie near the end of that chromosome. Current evidence suggests that both lie in band 9q34. MNSs, GPT and Gc can be excluded from chromosome 9.
Epistasis effect: an alternative to the hypothesis of linkage disequilibrium in HLA associated diseases
Authors: CLERGET‐DARPOUX F. , BONAÏTI‐PELLIÉ C.
Published: September 2007

Many studies on diseases associated with the major histocompatibility system rest on the hypothesis of a genetic susceptibility locus closely linked with the HLA complex in linkage disequilibrium.

An alternative model is proposed which assumes an epistasis effect between the disease gene and the HLA system. Such a model is shown to give familial distribution which may simulate genetic linkage in a sample.

The results are illustrated using data on insulin dependent diabetes.
The effect of ignoring the correlation among siblings on the bias of the variance of a parent‐child regression coefficient
Authors: DONNER A.
Published: September 2007

The bias arising from ignoring the sib‐sib correlation ρ88 in estimating the variance of a parent‐child regression coefficient is investigated algebraically and using Monte Carlo simulation. It is found that the true variance can be seriously underestimated for moderate values of ρ88. Recommendations are given for removing this bias.
A collaborative study of the aetiology of Turner Syndrome
Authors: CAROTHERS A. D. , FRACKIEWICZ A. , MEY R. DE , COLLYER S. , POLANI P. E. , OSZTOVICS M. , HORVÄ K. , PAPP Z. , MAY H. M. , FERGUSON‐SMITH M. A.
Published: September 2007

Data on Turner Syndrome from four sources were analysed for possible associations with several aetiological factors. Two classes of liveborn propositae were included, those with a non‐mosaic 45, X karyotppe (XO) and those with an isochromosome of the long arm of the X (iso‐X). The numbers were 288 and 84 respectively and constitute the largest series of such cases to be analpsed t o date. For the XO's, an analysis using the liveborn full sibs of propositae as controls (method of Carothers et al. 1978) confirmed earlier studies in finding no positive association with parental age or birth order, and even suggested a small negative association. There were no significant differences between the mean parental ages of those cases shown by Xg grouping to have received a maternal X chromosome and those of the remainder. Among the iso‐X's there was an exceptionally high proportion (17.5 %) of parents with an age difference (paternal‐maternal) of 10 or more years, raising the possibility of a paternal age effect. This agrees with earlier studies but conflicts with the finding of a negligible tendency for affected inditiduals to be born later within their sibships. The apparent discrepancy may be due to the relative insensitivity of the latter method to small parental age effects in samples of this size. For the XO's there were no detectable seasona1 variations in the month of birth, but for the iso‐X's there was a significant excess of births in the first 6 months of the year.
A three‐allele model for heterogeneity of juvenile onset insulin‐dependent diabetes
Authors: HODGE SUSAN E. , ROTTER JEROME I. , LANGE KENNETH L.
Published: September 2007

A three‐allele model is presented for the inheritance of ‘juvenile’ insulin‐dependent diabetes mellitus (IDDJI). The model postulates a susceptibility locus S tightly linked to the HLA complex. The model incorporates relative‐risk and HLA‐association data from the literature which suggest genetic heterogeneity within IDDM, together with population prevalence, twin and sib concordance rates, and distortions in HLA haplotype concordance values for affected sib pairs. The model appears to provide a reasonable fit to existing data. It predicts low penetrances for some, but not all, genotypes and a strong association between HLA B8 and one of the S alleles. The model makes additional specific predictions about how different forms of IDDX are distributed in sporadic and familial cases. These predictions can be tested in future genetic‐epidemiologic studies.
Relationship between single‐and multi‐locus measures of gene diversity in a subdivided population
Authors: CHAKRABORTY RANAJIT
Published: September 2007

A mathematical relationship between the coefficient of gene diversity as derived from average single locus statistics and Smouse and Spielman's multi‐locus measure is established under the assumption of linkage equilibrium in a substructured population. A formula for estimating the average time of split of subpopulations from such gene diversity is also derived for the multi‐locus criterion. Unlike the estimate derived for single‐locus criterion, this estimate does not explicitely depend on the number of subpopulations. The method is illustrated with data on allozyme studies from the South American Indian populations.
Muscle phosphofructokinase deficiency in man: expression of the defect in blood cells and cultured fibroblasts
Authors: KAHN A. , WEIL D. , COTTREAU D. , DREYFUS J.‐C.
Published: September 2007

Using specific immunoprecipitation of M‐type phosphofructokinase and assay of immuno‐precipitate enzyme activity, it was possible to detect some M‐type enzyme in normal blood cells and fibroblasts, although this isozyme represents a very small part of total phosphofructokinase. White blood cells and cultured fibroblasts from a patient with hereditary muscle phosphofructokinase deficiency showed normal phosphofructokinase activity and electrophoretic pattern; direct immunoneutralization results were also normal. Nevertheless, it was possible to prove the defect in these cells using the immunoprecipitation method: no active immunoprecipitates could be obtained with anti M‐type antibody.

Thepatient's red blood cells had a reduced phosphofructokinase activity which was only neutralized by anti L‐type antiserum. Total purification of partially deficient red cell phosphofructokinase confirmed that this enzyme only consisted of L‐type subunits while, under normal conditions, both L‐ and M‐type subunits are observed.

The possibility of detecting specific enzyme defects in apparently non‐affected cells could be of practical importance, especially in prenatal diagnosis.
A comparison of the kinetic properties of the common and rare variants of adenosine deaminase
Authors: ROGERS P. A. , HOPKINSON D. A.
Published: September 2007

Adenosine deaminase activity has been measured in red cells from individuals of known ADA phenotype (ADA 1, ADA 2‐1, ADA 3‐1, ADA 3‐2) using adenosine and 2′‐deoxyadenosine as substrates. No significant differences were observed among the phenotypes in their relative deaminase activity with the two substrates. However, evidence suggests the occurrence of an uncommon allele designated ADA1wdetermining low levels of ADA activity.

The deaminase activities of the phenotypes were in the order ADA 1 > ADA 2‐1 > ADA 3‐1 > ADA 3‐2 with both substrates. The relative activities of the alleles were estimated to be: ADA1 100%, ADA2 89%, ADA3 28% and ADA1 67% with adenosine, and ADA1 100%, ADA2 87%, ADA3 39% and ADA1 66% with 2′‐deoxyadenosine.

The Michaelis constants for adenosine and 2'‐deoxyadenosine were determined for the different phenotypes. There were no significant differences in these values among the phenotypes.
Electrophoretic analysis of glycoprotein enzymes in the sialidoses and mucolipidoses
Authors: SWALLOW D. M. , O'BRIEN J. S. , HOOGEVEEN A. T. , BUCK D. W.
Published: September 2007

Ten enzymes, all known to be glycoproteins, were examined by electrophoresis or gel isoelectric focusing in 12 different patients with primary or secondary sialidase deficiency. Aberrant electrophoretic mobilities of many of the enzymes attributable to abnormal sialylation were found in all the patients. In ten of the patients seven of the enzymes were affected. The unaffected enzymes were β‐galactosidase, alkaline phosphatase and β‐glucuronidase. In the cells from the two patients with I cell disease (mucolipidosis II) in which sialidase is one of many deficient enzymes, β‐galactosidase, α‐galactosidase, α‐fucosidase and α‐mannosidase were undetectable, alkaline phosphatase showed a normal electrophoretic mobility and acid phosphatase, adenosine deaminase, α‐glucosidase and β‐D‐N‐acetylhexosaminidase showed aberrant mobilities.
Natural selection associated with birth weight II. Stabilizing and directional components
Authors: ULIZZI L. , GRAVINA M. F. , TERRENATO L.
Published: September 2007

The differences of birth‐weight distributions before and after selection by the different components of perinatal mortality were studied for all single babies born in Italy in 1974. It was found that:

(i) In mature babies the selection is mainly stabilizing while the directional type is almost negligible.

(ii) In immature babies both stabilizing and directional selection are at work, greatly modifying the birth weight distributions.
δ‐aminolevulinate dehydrase: a new genetic polymorphism in man
Authors: BATTISTUZZI G. , PETRUCCI R. , SILVAGNI L. , URBANI F. R. , CAIOLA S.
Published: September 2007

A method has been developed for the electrophoretic and quantitative analyses of human red cell δ‐aminolevulinate dehydrase (ALADH). The enzyme is under the control of an autosomal gene, with two common codominant alleles, ALADH1 and ALADH2, with frequencies of 0–89 and Oil, respectively, in the Italian population. Mean phenotypic enzyme activities are nearly identical: 52, 49 and 55 mlU/g Hb for ALADH 1, 2‐1 and 2 phenotypes respectively.
Natural selection associated with birth weight. III. Changes over the last twenty years
Authors: TERRENATO L. , GRAVINA M. F. , MARTINI A. SAN , ULIZZI L.
Published: September 2007

Differential stillbirth rates as a function of birth‐weight have been studied in all single births in Italy in the years 1954, 1961, 1967 and 1974. In the course of the twenty year interval of observation the following changes were found: (i) a progressive equalization of mortality in birth‐weight classes near the mean; (ii) a reduction of the directional component of selection which is parallel to the increase of mean birth‐weight (in the case of 8 months of pregnancy); (iii) a reduction of the stabilizing component of selection which is parallel to the decrease of birth‐weight variance (in the case of 9 months of pregnancy); (iv) a reduction of selection intensity, while selective mortality remains more or less unchanged. The modifications of natural selection associated with birth‐weight as a consequence of health care progress in this population are also discussed.
Pedigree analysis of Hodgkin's disease in a Newfoundland genealogy
Authors: THOMPSON E. A.
Published: September 2007

An extensive Newfoundland genealogy shows a large number of cases of lymphoreticular malignancies. A recessive pattern of inheritance had been previously suggested, but no quantitative investigation of the hypothesis was made. Here we have investigated a variety of aspects of the descent structure of the pedigree and shown that for only a subset of the traits can the inference be upheld. For Hodgkin's disease (HD) and generalized immunodeficiency (ID) there is clear evidence for a recessive HD/ID susceptibility allele. The remainder do not follow this pattern, show no evidence of a single‐locus effect and little of any genetic effect.

The ancestry of the HD/ID cases was therefore investigated in detail, and likelihoods computed on the pedigree. These confirmed the recessive nature of the trait, as also did the risk analysis which quite clearly identified the paths of descent taken by the allele. The determination of these paths is a prerequisite for any linkage analysis which might further confirm the single‐locus nature of the trait.
Further genetic heterogeneity of human red cell phosphoglucomutase‐1: a non‐electrophoretic polymorphism
Authors: SCOZZARI R. , TRIPPA G. , SANTACHIARA‐BENERECETTI A. S. , TERRENATO L. , IODICE C. , BENINCASA A.
Published: September 2007

The electrophoretic patterns of human red cell phosphoglucomutase (PGM) were determined by standard starch‐gel electrophoresis on two aliquots of haemolysate, one of which was previously heat‐treated. Samples from 67 families and 417 unrelated healthy subjects were examined. Heat denaturation studies combined with electrophoresis showed a greater heterogeneity of phosphoglucomutase‐1 (PGM1) isozymes than that revealed by electrophoresis alone. Both the PGM} and the PGM? isozymes turned out to be either heat‐resistant (tr) or heat‐sensitive (ts) and this new phenotypic property segregated along with the electrophoretic allele with which it was originally associated. Comparison of red cell PGM1 patterns of 217 PGM12‐l heterozygous individuals, analysed both as described in this paper and by acid starch‐gel electrophoresis, which also distinguishes two common PGM11 (PGM11S and PGM11F) and two common PGM12(PGM12Sand PGM12F) allelic products, has shown that the two sets of four alleles do not coincide. Thus eight different PGM1 alleles were identified. The PGM11Str, PGM11Sts, PGM11Ftr, PGM11Fts, PGM12Str, PGM12Sts and PGM12Ftsgene frequencies were estimated as 0523,0–066,0099, 0–029, 0–224, 0–012, 0–043, 0–004, respectively.

Three polymorphic sites are hypothesized within the PGM1 structural gene and the observed frequencies of the eight alleles discussed in terms of ‘disequilibrium’ among these sites.

This is the second example of a human enzyme isoelectrophoretic polymorphism revealed by research specifically aimed at detecting electrophoretically cryptic genetic variations. The technique used in this study appears to offer a reliable means of detecting isoelectrophoretic variants for proteins already known to be electrophoretically polymorphic.
The origin of human trisomy: a study of heteromorphisms and satellite associations
Authors: JACOBS P. A. , MAYER M.
Published: September 2007

The origin of the additional chromosome was studied in 45 trisomic‐21 Down‐syndrome patients. In 17 patients the additional chromosome was maternal, in 2 it was paternal and in the remaining 26 the parental origin could not be determined. Acrocentric chromosome association was studied in parents of Down‐syndrome offspring and in parents of spontaneous abortions that were trisomic for an acrocentric chromosome. Parents of trisomic 16 abortuses and parents of triploid and chromosomally normal abortuses were used as controls. No increased association index was found for the specific acrocentric chromosome involved in the trisomy, either for the liveborn or for the aborted trisomies. However, the overall association index of the parent in whom the non‐disjunctional event leading to the acrocentric trisomy occurred was increased by comparison with that of the parent in whom non‐disjunction did not occur and with that of the controls. The reasons why we consider satellite associations to play an insignificant role in the aetiology of non‐disjunction are discussed.
A life table for onset of Huntington's chorea
Authors: NEWCOMBE R. G.
Published: September 2007

Accurate quantitative assessment of risk in Huntington's chorea necessitates unbiased estimation of the distribution of age at onset. Previous studies have quoted the mean observed age at onset but this is biased, containing no contribution from heterozygotes who have not manifested the disorder by the study date. An iterative weighted life‐table approach is developed, which takes due account of such censored heterozygotes; it demonstrates a considerably older median age at onset than has hitherto been reported.
Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1
Authors: GUILOFF R. J. , THOMAS P. K. , CONTRERAS M. , ARMITAGE S. , SCHWARZ G. , SEDGWICK E. M.
Published: September 2007

Information from English families confirms the probable linkage of the loci for type 1 hereditary motor and sensory neuropathy (HMSN) and the Duffy blood group. Lod scores are given for types I and II autosomal dominant HMSN and genetic markers in blood.
Linkage between dentinogenesis imperfecta and Gc
Authors: BALL S. P. , COOK P. J. L. , MARS M. , BUCKTON K. E.
Published: September 2007

A large family with dentinogenesis imperfecta shows that this locus is linked to the Gc locus on chromosome 4q. The maximum lod score is + 7.9 at a male recombination fraction of 0.05 and female recombination fraction of 0.24.
New methods for the analysis of sex ratio data independent of the effects of family limitation
Authors: PICKLES A. R. , CROUCHLEY R. , DAVIES R. B.
Published: September 2007

A stochastic model has been described which allows for arbitrary Poisson, Lexian and family limitation effects. This model not only provides a framework for hypothesis tests concerning the determinants of sex ratio data but provides parameter estimates of considerable interest. Application of the model to Renkonen's data suggests the presence of Lexian and family limitation effects but the absence of Poisson effects.
Extension of human acid α‐glucosidase polymorphism by isoelectric focusing in polyacrylamide gel
Authors: NICKEL B. E. , McALPINE P. J.
Published: September 2007

1. A method to analyse acid α‐glucosidase (GAA) activity in human tissues by flatbed polyacrylamide gel isoelectric focusing has been devised.

2. With this method the GAA polymorphism has been extended from three to six commonly occurring phenotypes.

3. After isoelectric focusing the GAA2 isozyme migrated cathodally with respect to the GAA1 isozyme, whereas with the previous starch‐gel electrophoresis method their relative positions were reversed.

4. The six common phenotypes are generated by three alleles, GAA*1, GAA*2 and GAA*4 with frequencies of 0.91, 0.03 and 0.06, respectively.
Assignment of the gene for cytosolic alanine aminotransferase (AAT1) to human chromosome 8
Authors: ASTRIN K. H. , ARREDONDO‐VEGA F. X. , DESNICK R. J. , SMITH M.
Published: September 2007

The segregation of human cytosolic alanine aminotransferase (AAT1) and the individual human chromosomes has been studied in 27 secondary and tertiary rat hepatoma‐human (liver) fibroblast hybrids. The staining solution used to visualize AAT activity on starch gels was specific for AAT since it was visualized only when all components of the stain were present. The locus for human AAT1 has been assigned to chromosome 8.
Regulation of expression of liver‐specific enzymes: II. Activation and chromosomal localization of soluble glutamate‐pyruvate transaminase
Authors: KIELTY C. M. , POVEY S. , HOPKINSON D. A.
Published: September 2007

1. The expression of soluble GPT (E.C. 2. 6. 1. 2) was analysed in seventeen independent rat hepatoma/human somatic cell hybrids and in forty‐one subclones derived from two of these hybrids.

2. As judged by electrophoretic mobility, twelve hybrid clones expressed rat GPT activity only and three expressed strong rat and weak human GPT activity but no heteromeric isozymes. In the remaining two hybrids, only human GPT was demonstrable.

3. The segregation of GPT and marker enzymes in the primary hybrid cells and the subclones suggests that the human structural GPT locus is on chromosome 8.

4. The re‐expression of rat GPT in segregating subclones derived from two primary hybrids which had extinguished this function, could not be correlated with presence or absence of any particular human chromosome(s).
Design considerations in the estimation of intraclass correlation
Authors: DONNER A. , KOVAL J. J.
Published: September 2007

The design of family studies to estimate the value of an intraclass correlation coefficient p is considered when ni individuals are to be selected from each of k families, i = 1, 2, …, k. In particular, the accuracy of a balanced design (ni=n, i = 1,2,…,k) for estimating p is compared with the accuracy of an unbalanced ‘natural’ design, in which the ni are sampled at random from family size distributions that tend to occur in practice. It is found for two different estimators of p that the balanced design is usually preferable, but only to a small degree if the number of families sampled is greater than 50.
Inference on inheritance of disease using repetitions of HLA haplotypes in affected siblings
Authors: GREEN J. R. , LOW HENG CHIN , WOODROW J. C.
Published: September 2007

A new analysis of family data concerning the repetitions of HLA haplotypes among affected siblings is presented to provide a method to determine the mechanism of inheritance of some diseases. The analysis differs from earlier ones in two major respects: sibships containing more than two affected sibs are included in the analysis, and due account is taken of the number of unaffected sibs in each sibship.

Data relating to juvenile diabetes are analysed, and a recessive mode of inheritance of this disease is confirmed.
Birth weight, placental weight and gestation time in relation to natural selection in Thailand
Authors: PROMBOON S. , MI M. P. , CHATURACHINDA K.
Published: September 2007

Birth weight, placental weight and gestation time of 26258 single births at Ramathibodi Hospital during 1973–7 were studied in relation to natural selection by fitting quadratic function to natural log of survivors‐to‐nonsurvivors ratios. The survival criterion was 7 days after delivery. The estimated optimal values of birth weight and placental weight were 0.62 and 0.90 standard deviations, respectively, above the corresponding arithmetic means. Selection on birth weight and placental weight was asymmetrical about the optima, being more intense among the lower than the higher values. On the other hand, selection on gestation time seemed most stabilized with the optimum almost coinciding with the mean.
A general model for disease‐marker association
Authors: RISCH N.
Published: September 2007

A general model for analysing disease‐marker associations from a random sample of patients and controls is given, assuming an arbitrary number of marker and disease susceptibility alleles. A method for testing the goodness‐of‐fit of various disease susceptibility models to the observed distribution of genotypes at the marker locus in patient and control samples is given. The method is demonstrated using a recently published data set on type I diabetes.