bluuebunny/crossref_metadata_2025 huggingface dataset:
AN AETIOLOGICAL STUDY OF CONGENITAL HEART DISEASE
Authors: POLANI P. E. , CAMPBELL MAURICE
Published: September 2007

A statistical study was carried out on 377 families containing children with congenital heart disease, seen and diagnosed in the Cardiac Department of Guy's Hospital. The patients were divided into three main clinical groups: (1) those with Fallot's tetralogy; (2), (3) and (4) those with other forms of cyanotic heart disease; and (5) and (6) those with acyanotic heart disease. Five cases of mongolism and two following maternal rubella were excluded.

The following conclusions were reached:

I. There was an excess of affected children with Fallot's tetralogy born between maternal ages 40 and 44 years; otherwise no effect of maternal age was evident. Paternal age and birth rank had no effect.

II. Although the seasonal incidence of congenital heart disease was the same as in the general population, there was a significant difference of seasonal incidence between males and females.

III. There was a significant excess of males among the cases of Fallot's tetralogy, coarctation of the aorta, transposition of the great vessels, and, especially, congenital aortic stenosis. The aorta of the male appears to be more vulnerable to congenital and acquired defects than that of the female.

IV. The incidence of congenital heart disease among the sibs born after the propositus was about twenty times the incidence in the general population (2 per 100 as against 1 per 1000 at the age of 10 years).

V. No association was observed between twinning and congenital heart disease.

VI. There was no excess of stillbirths, miscarriages or abortions, nor was there any concentration of disturbed pregnancies.

VII. Search was made for a period of relative sterility preceding or following the birth of the affected child but convincing evidence of this was not found.

VIII. There were twelve examples of associated malformations in the 377 propositi, cleft palate figuring three times, congenital club foot, mental defect and hemivertebra twice each. The incidence of malformations, other than congenital heart disease, in the sibs of the propositi was 2 %.

IX. The incidence of congenital heart disease in relatives other than sibs was investigated.

X. The incidence of first‐cousin marriages among parents was 0.8%, a figure not significantly different from what could be expected in a hospital population (0.4%) yet identical with the percentage to be expected on the hypothesis that congenital heart disease results from simple autosomal recessive inheritance.

XI. Maternal infections are of importance only in rare cases.

XII. There was no evidence of limitation of family size.
BLOOD GROUPS IN JEWS FROM COCHIN, INDIA
Authors: GUREVITCH J. , HASSON E. , MARGOLIS E. , POLIAKOFF C.
Published: September 2007

Blood‐group frequencies in 275 Jews from Cochin, India, are reported. The results are compared with findings in other Jewish communities.
BLOOD GROUPS IN JEWS FROM IRAQ
Authors: GUREVITCH J. , MARGOLIS E.
Published: September 2007

The blood‐group frequencies of ABO, MN and Rh in 129 Kurdistan! Jews and 162 Jews from Baghdad are reported.

We are indebted to Dr Muhsam, Lecturer in Statistics, the Hebrew University, Jerusalem, for statistical analysis of the data.
BLOOD GROUPS IN JEWS FROM TRIPOLITANIA
Authors: GUREVITCH J. , HASSON E. , MARGOLIS E. , POLIAKOFF C.
Published: September 2007

Blood‐group frequencies in 200 Jews from Tripolitania are reported. The results of the study are compared with findings in other Jewish oriental communities.
TASTE THRESHOLDS FOR PHENYLTHIOCARBAMIDE OF SOME POPULATION GROUPS
Authors: LUGG J. W. H. , WHYTE J. M.
Published: September 2007

1. A technique of estimating thresholds of taste for phenylthiocarbamide intended for use subsequently with small groups of primitively living subjects, has been employed in the first instance in a study of four samples, each of fifty subjects drawn from a civilized ethnic group living in Malaya, the groups being Chinese, European, Indian (Tamil) and Malay.

2. The threshold values (recorded as T.S.N. values, viz. as values of n in the expression, 2–60 × 2‐n g./I., for the threshold concentrations of the substance) have been corrected for age and sex effects to the 32‐year‐old male as standard subject, on the basis of certain assumptions. The corrected data have been found to yield frequency distributions preferable to those yielded by data not so corrected.

3. The so‐called ‘non‐taster’: ‘taster’ ratios found in the four samples previously mentioned were 0–02:0‐98, 0–196:0‐804, 0–272:0‐728 and 0–156:0‐844 respectively. As estimates of the ratios in the corresponding ethnic groups, these values have large standard deviations because of the small sample sizes. Even so, the differences between the ratios of the Chinese on the one hand and of each of the other groups on the other, are of appreciable statistical significance. Differences of appreciable statistical significance have been found between the mean T.S.N. values of some of the ‘taster’ fractions (range of means, 9–57‐10‐85) and also between the variances of the T.S.N. values of some of the ‘taster’ fractions (range of variances, 2–512‐6‐937). The findings of the study have been compared with those of some other investigators who have worked with various ethnic groups.
NON‐RANDOMNESS IN CONSANGUINEOUS MARRIAGE*
Authors: MORTON By NEWTON E.
Published: September 2007

For Japanese, English, Brazilian and Austrian populations, estimates of genetic isolate size based on different types of consanguineous marriage range over more than one order of magnitude, being much greater for uncle‐niece and aunt‐nephew marriage than for first‐cousin marriage, with second cousins giving estimates about 10 times greater than first cousins. These discrepancies agree with the probable non‐randomness of consanguineous marriage, and are so great that little reliance can be placed on estimates of isolate size from consanguineous marriage.

It is known that for rare partially sex‐linked recessive traits the ratio of affected females to affected males depends on the proportions of four types of first cousin matings. Data from Austrian and Japanese populations reveal three significant kinds of non‐randomness which, however, would have very little effect on the expected frequency of females among partially sex‐linked recessives, if such genes exist in man.

For the populations sampled, non‐randomness is shown to persist in the different mating types of first cousins once removed, second cousins once removed, and second cousins.
A NOTE ON THE OCCURRENCE OF SINGLE‐SEX SIBSHIPS
Authors: HEWITT By D. , WEBB J. W. , Stewart A. M.
Published: September 2007

A large sample of families drawn from the general population was found to contain an unexpectedly large number of all‐male sibships. This did not seem to be compatible with the hypothesis that sex is always determined by chance, but was in accord with the finding of an earlier study (Ounstead, 1953) based on selected families containing children with convulsive disorders.
SIB RESEMBLANCE IN BONE, MUSCLE AND FAT MEASUREMENTS OF THE HUMAN CALF
Authors: HEWITT DAVID
Published: September 2007

Separate measurements of bone, muscle and fat at ages up to 5 have been made from calf X‐rays of 120 pairs of sibs attending the Oxford Child Health Survey. The degree of sib resemblance in these measurements and in external calf circumference is found to be high, particularly when allowance is made for unavoidable errors of measurement.

Sib resemblance in respect of muscle breadth increases with age, while for fat thickness it appears to decrease. In the case of muscle there is some evidence that fluctuations in growth as well as the average rate of growth are genetically controlled.

There is no evidence of sex‐linkage. Correlation between different tissues in the same child is negligible.

Assessments of skeletal maturity show a moderate correlation with bone diameter, but little association with muscle and none with fat. The amount of measurable sib resemblance is greater when these tissues are examined separately than when they are considered in relation to one another.

The Oxford Child Health Survey was launched by the late Prof. John Ryle with assistance from the Medical Research Council; in recent years it has been directed by Dr A. M. Stewart. I am greatly indebted to Dr C. K. Westropp and Dr J. Parfit who were responsible for the clinical work of the survey, to Miss E. Roberts and Miss M. Barnes who took all the X‐rays, to Drs R. M. Acheson, L. Mynors and E. Jefferson who made the assessments of skeletal maturity and to Dr J. M. Tanner for criticisms of the draft.
TESTING ASSOCIATION OF METRIC TRAITS AND MARKER GENES
Authors: LOWRY DOROTHY C. , SHULTZ FRED T.
Published: September 2007

A method of testing for association between particular marker genes and genes with polygenic effects on a metric trait is described. Limited tests on a blood group locus and certain metric traits of chickens failed to show any association. The problem and this approach to it are deemed not without interest.
NON‐RANDOM MATING, AND ITS EFFECT ON THE RATE OF APPROACH TO HOMOZYGOSITY
Authors: WATTERSON G. A.
Published: September 2007

In this paper, various systems of non‐random mating are considered for both monoecious and dioecious diploid populations. The effect of positive assortative mating on the rate of approach to homozygosity is investigated, at a single chromosome locus in the absence of mutation. The difficulty of setting up an amenable theoretical model for negative assortative mating is discussed. It is found that for a monoecious population, positive assortative mating increases the rate by a factor between 1 and 2 compared with random mating. For a dioecious population, assortative mating may either increase or decrease the rate of approach to homozygosity, depending on the mating system and the divergence of the sex numbers from equality. A population whose birth‐death events occur in succession (a model introduced by Moran), is known to approach homozygosity at twice the rate of a population with non‐overlapping generations, and this result is shown to hold under positive assortative mating. The probability of fixation of an allele is obtained, and depends on the initial gene frequencies.
RE‐EXAMINATION OF A FAMILY WITH PICK'S DISEASE
Authors: SCHENK V. W. D.
Published: September 2007

A family, which was originally investigated in 1938 when it contained ten cases (four males and six females) of Pick's lobar atrophy, has been followed up and ten more cases (two males and eight females) have developed in the interval. The newly affected people and those members of the family who have remained normal are described. The outcome is compared with prognoses made in 1938.
CYSTATHIONINURIA
Authors: HARRIS H. , PENROSE L. S. , THOMAS D. H. H.
Published: September 2007

During a survey by paper chromatography of amino acids in urine from patients in a mental deficiency hospital, one patient was found who was excreting an unusual ninhydrin reacting substance in large amounts. The substance was identified chromatographically as cystathionine, an amino acid which has not been previously found in human urine. The evidence suggests that the abnormal excretion of cystathionine was due to an inborn error of metabolism represented by a metabolic block at the point where cystathionine is normally cleaved to give cysteine and homoserine.
The familial incidence of twinning
Authors: BULMER M. G.
Published: September 2007

1. Mothers, but not fathers, of twins are more often themselves twins than expected.

2. There appears to be an increased twinning rate among the children of the brothers and sisters of the fathers of twins, and of the sisters of mothers of twins but not among the children of the brothers of mothers of twins. Internal evidence suggests that the increase among the children of the father's sibs is spurious, and is due to under‐reporting of single births on the father's side of the family.
Somatic chromosome complement in continuously cultured cells of two individuals with gonadal dysgenesis*
Authors: FRACCARO M. , KAIJSERJ K. , LINDSTEN J.
Published: September 2007

1. Previous evidence in favour of the concept that certain patients with gonadal dysgenesis have a sex‐chromosome constitution of the type XO and that this originates through nondisjunction during gameto‐genesis of the parents is discussed.

2. The methods for in vitro cultivation of cells derived from sternal marrow and skin of adult individuals and the screening, staining and chromosome‐counting procedures are described in detail.

3. Some aspects of the natural history of these cultures are discussed.

4. The clinical findings in two girls affected with gonadal dysgenesis of the Turner's type are briefly reported.

5. Marrow and skin cells derived from these patients have been continuously cultivated in vitra and their chromosome numbers and complements determined. In both cases the cells displayed a modal number of forty‐five chromosomes. Analysis of the karyotype of these cells and comparison with the normal female cell karyotype showed that an X chromosome is probably missing. After several transfers in vitro the chromosome number and the karyotype were unchanged.

6. The theoretical and practical implications of these findings are discussed. In man the Y chromosome is a bearer of male‐determining factors. Patients with this type of gonadal dysgenesis are to be considered females with an unusual genotype.
The occurrence of two unusual serum protein phenotypes in a single pedigree
Authors: Harris H. , Lawler S. D. , Robson E. B. , SMITHIES O.
Published: September 2007

A family is described in which two rare serum protein phenotypes are segregating. Some individuals possess, in addition to the usual transferrin (β‐globulin C), an unusual transferrin B2, which has a higher mobility in starch gel electrophoresis. Such individuals of type TfB2C are distributed in the manner to be expected if they were heterozygous for a common gene determining transferrin C and a rare gene determining transferrin B2. A modified 2‐1 haptoglobin phenotype also occurs in two generations of this family. Some possible mechanisms of its inheritance are discussed.
A contribution to the heredity of the P.T.C. taste character
Authors: PONS JOSE
Published: September 2007

Taste sensitivity to P.T.C. has been determined by the sorting technique of Harris & Kalmus in 177 sib pairs, inhabitants of Barcelona. The data are in satisfactory agreement with the genetic hypothesis that non‐tasting is a simple recessive character.
A note on the frequency of ABO heterospecific pregnancy
Authors: KNOX GEORGE
Published: September 2007

An algebraic statement is derived expressing the frequency of ABO heterospecific pregnancy in a population for which the gene frequencies are known. Results derived by substitution are compared with published observations. Consistent differences are found, but it is suggested that they may largely result from assortative mating rather than immunological risks to heterospecific foetuses.
Taste sensitivity to P.T.C. in samples from three Brazilian populations*
Authors: FREIRE‐MAIA ADEMAR , QUELCE‐SALGADO ANTONIO
Published: September 2007

1. The frequencies of non‐tasters to p.t.c. were determined in samples from three Brazilian populations: Salvador, Ba (38%), Curitiba, Pr (26%), and Presidente Prudente, SP (8%). The frequency of non‐tasters in the white Brazilian general population is calculated to be about 30 %, giving the frequency of the non‐taster gene equal to 0.55.

2. Using the Harris & Kalmus method, the existence of variations within single individuals in taste sensitivity to p.t.c. was shown, thus confirming previous information obtained with a different and less precise method.

3. The frequencies of non‐tasters among smokers and non‐smokers were found to be statistically not significantly different.

4. The frequencies of non‐tasters obtained by other authors in adults from a tuberculosis sanatorium in Curitiba are statistically lower than those we obtained in normal individuals from the same city. This finding could be interpreted in favour of the hypothesis that the non‐taster genotype shows a higher susceptibility to tuberculosis.
Simplified method of estimating the MNS gene frequencies
Authors: DeGROOT MORRIS H. , LI C. C.
Published: September 2007

A simple method of estimating the MNS gene frequencies from six phenotypes has been presented. The arithmetic procedure of estimation has been illustrated by a numerical example (Table 2) and the variance formulas for numerical calculation are given in sT 10. This method is of high efficiency.
A family with Kartagener's syndrome: linkage data
Authors: KNOX GEORGE , MURRAY SHEILAGH , STRANG LEONARD
Published: September 2007

A family is presented in which three sibs were regarded as affected by differing degrees of Kartagener's syndrome. Linkage data are given which, while inconclusive alone, suggest the possibility of linkage with Rh and may serve as a useful starting point for sequential additions.
A possible case of mongolism in a Saxon population
Authors: BROTHWELL D. R.
Published: September 2007

Briefly, then, the anatomical features which together strongly suggest mongolism in the Saxon child are:

(1) Microcephaly, as shown particularly by vault length, breadth, and cranial capacity.

(2) Hyperbrachycephaly, the index being abnormally high for an Anglo‐Saxon (whether child or adult).

(3) Small sphenoid body and high angle of the basi‐occipital.

(4) Thinness of the cranial bones.

(5) Small maxilla but fairly normal mandible size.

(6) Minor anomalies of the dentition.
Data on linkage in man: ovalocytosis, sickling and the Rhesus blood group complex
Authors: CLARKE C. A. , DONOHOE W. T. A. , FINN R. , McCONNELL R. B. , SHEPPARD P. M. , NICOL D. S. H.
Published: September 2007

1. Two families are reported in which linkage between the gene controlling ovalocytosis and that of the Rhesus blood group complex is present. In those individuals where cross‐overs could have been detected none was in fact found in either family.

2. In the first pedigree the propositus was a West African negro of genotype cDe/cde (RQr) and as far as we know this is the first time that the linkage with ovalocytosis has been shown to occur with the cDe Rhesus combination.

3. In family I some of the relatives of the propositus were found to be sicklers and the data suggest the possibility that the locus controlling the trait is linked with that of blood group P. However, the findings could easily be due to chance and further pedigrees need to be investigated.
A further genetically determined transferrin variant in man
Authors: HARRIS H. , PENINGTON D. G. , ROBSON E. B. , SCRIVER C. R.
Published: September 2007

Two families are described in which a new transferrin variant D4 is segregating. It has a mobility in starch gel electrophoresis at pH 8‐6 lower than that of transferrin C and higher than that of transferrin Dv The fact that it is different from D0 could be demonstrated using borate buffer, but not with the Tris/borate system. The familial distribution of the phenotype Tf CD4 suggests that individuals of this phenotype are heterozygous for genes, one of which is necessary for the formation of transferrin C and the other for transferrin D4. There is no suggestion that transferrin D4 is associated with any clinical abnormality, or with any other variation in serum protein formation. The frequency of the Tf CD4 phenotype is approximately 1 in 625.
Data on linkage in man. The nail‐patella syndrome, family S
Authors: CLARKE C. A. , McCONNELL R. B. , SHEPPARD P. M.
Published: September 2007

A further small family in which there is linkage between the ABO blood group and nail‐patella loci is reported, the gene controlling the skeletal condition being linked in coupling with that determining the A1 blood group. One cross‐over is reported among the eight individuals who might have inherited the condition.

We are grateful to Dr E. T. Baker‐Bates for introducing his patient, the propositus, to us.
An investigation of the carrier state in the Duchenne type muscular dystrophy*
Authors: LEYBURN PETER , THOMSON W. H. S. , WALTON JOHN N.
Published: September 2007

In an attempt to discover a laboratory test by means of which female carriers of the gene For the Duchenne type muscular dystrophy could be identified, creatine and creatinine excretion has been studied in forty‐eight female relatives of patients suffering from this variety of muscular iystrophy. The activity in the serum of aldolase, of serum glutamic oxalacetic transaminase (SGOT) and of serum glutamic pyruvic transaminase (SGPT) has also been determined in thirty‐six female relatives. The females tested were divided into three groups: (a) known carriers, (b) possible carriers, and (c) probable non‐carriers. No significant differences were discovered between the results obtained in each of these three groups. No method of identifying female carriers has yet been discovered.

We are grateful to Dr A. L. Latner for his advice and for providing facilities in the Department of Chemical Pathology of the Royal Victoria Infirmary for biochemical estimations to be carried out in the Newcastle upon Tyne series. Creatine and creatinine estimations on the female relatives of patients living in the London area were carried out in the Department of Chemical Pathology, the Institute of Neurology, the National Hospital, Queen Square, by kind permission of Prof. J. N. Cumings. The pedigree was prepared by Miss M. Mustart of the Department of Photography, King's College, Newcastle upon Tyne, and statistical analyses were performed by Mrs D. Weightman of the Department of Industrial Health, King's College.
The birthplaces of parents and grandparents of a series of patients with phenylketonuria in south‐east England
Authors: CARTER C. O. , WOOLF L. I.
Published: September 2007

A comparison has been made of the birthplaces of the parents and grandparents of a series of patients with phenylketonuria with those of the parents and grandparents of three control series of patients with Hirschsprung's disease, congenital dislocation of the hip and coeliac disease. The index patients in each series have been restricted to those referred to The Hospital for Sick Children from homes in south‐east Englànd.

It was found that a high proportion of the parents and grandparents of the phenylketonuric patients were born in Ireland or west Scotland. The frequencies, relative to the control patients, of phenylketonurias with grandparents born in Ireland or west Scotland, suggest that the frequency of the gene for phenylketonuria is about four times as high in the population of these parts of the British Isles as in the population of south‐east England.

It is also noteworthy that several phenylketonuria patients had Lithuanian or Polish ancestry, and one patient was of gypsy descent on both sides of the family.

We wish to thank Prof. A. A. Moncrieff, Dr J. A. Fraser Roberts and Dr A. C. Stevenson for their encouragement during the investigation and their criticism of this paper, also Dr M. Fraccaro and Dr J. Stern for their help with the references, and Prof. H. Utena for his information about Japan. One of us is indebted to the Research Committee of The Hospital for Sick Children for financial support in the early part of this investigation.
A pedigree of extra‐digit‐V Polydactyly in a Batutsi family
Authors: WALKER J. T.
Published: September 2007

A new pedigree of post‐axial Polydactyly concerned with four generations in a family of the Batutsi tribe is presented. Only one of the family members examined was affected; his hands showed typical extra‐digit‐V hexadactyly but his feet had different abnormalities. No documentary evidence existed and the pedigree was constructed from verbal information. Irregular dominance of the trait is shown, and it is deduced that the mode of inheritance can be explained by postulating two dominant genes, one of which controls the penetrance of the Polydactyly gene.

Mr R. G. Passmore brought Bakundukize to the writer's notice and Mr H. L. Manning and Drs A. G. M. Davies and J. E. Dale criticized the manuscript. Mr T. Eddie kindly provided the X‐ray negatives.
Seasonal incidence of congenital disease in Birmingham
Authors: EDWARDS J. H.
Published: September 2007

Data are advanced showing that considerable seasonal variations in the incidence of some common congenital malformations can be demonstrated. It is suggested that this is probably a feature common to many congenital malformations, although its demonstration will usually require extensive data.

* The author is grateful to Dr G. R. Fraser for allowing him to examine his very extensive data on cleft palate, cleft palate and hare‐lip, and hare‐lip. These show no suggestion of any appreciable seasonal variation.
Mongoloid twins with 48 chromosomes (AA + A21XXY)
Authors: HUSTINX T. W. J. , EBERLE P. , GEERTS S. J. , BRINK J. TEN , WOLTRING L. M.
Published: September 2007

A 7‐month‐old pair of mongoloid twins is described (one of which died) who both had 48 chromosomes with A A + A21XXY. The pair must have been an identical twin, who would develop Klinefelter's syndrome.

L. E. Nijenhuis (Anthropogenetics Dept. Red Cross Blood Transfusion Laboratory, Amsterdam) informed us on the data of blood groups. We are indebted to E. D. A. M. Schretlen, paediatrician (Paediatric Clinics, R.C. University) for performing tibia puncture. Our thanks are due to W. G. van Aken (med. student), Miss M. A. W. Janssen and A. P. Jansen for valuable assistance in counting, analysing and technical help. Dr J. C. Seelen, M.D. (Gynaecological Clinics, R.C. University) gave valuable help in evaluating the preparations for Barr‐bodies.
A male with XXYY chromosomes
Authors: ELLIS J. R. , MILLER O. J. , PENROSE L. S. , SCOTT G. E. B.
Published: September 2007

In a survey of mentally retarded males with small testes, a man was found whose sex chromosome complement has been interpreted as XXYY. The family history gave no indication as to the origin of the anomaly and various possibilities are discussed. Non‐disjunction of the Y‐chromosomes at the second meiotic division in spermatogenesis combined with some other accident producing two X‐chromosomes in sperm or ovum is postulated. Clinical and pathological investigation revealed a number of physical peculiarities, including absence of most of the left epididymis associated with testicular atrophy. His stature is 6 ft. 5 in.

The writers are indebted to many people who have helped them at different points in this investigation. They would like to take this opportunity of thanking Dr D. H. H. Thomas for granting facilities, Mr D. S. Morgan‐Jones for obtaining biopsy material, Drs J. Munro Sherriff and I. F. Sommerville for ketosteroid and other endocrine estimations, Miss M. Mann for preparing histological sections, Dr Sarah B. Holt for examining the finger ridge patterns, Miss B. J. Warland for obtaining the family history and Mr C. Payling Wright and Mr N. Bishun for technical assistance.
The genetics of diabetes: A study of 233 families of juvenile diabetics
Authors: SIMPSON NANCY E.
Published: September 2007

The number of diabetic parents among 374 living parents of juvenile diabetics was no greater than expected for their age (calculated from a population survey). The number of diabetic parents who were less than 40 years of age, however, was greater than that in the population.

A similar comparison of the incidence of diabetes among 535 living sibs of juvenile diabetic propositi showed a tenfold increase of diabetes over that expected and one diabetic observed among 114 offspring of the propositi was greater than expected.

A preponderance of sibs with an early age at onset was found for those sibs of juvenile diabetic propositi, over that found among sibs of adult propositi.

The data indicate that the predisposition for diabetes at an early age is under genetical influence which is not compatible with the single gene hypotheses of recessive, intermediate or dominant inheritance. Genetic heterogeneity between juvenile and adult diabetes is suggested and discussed. Theories of multiple genes or modifying genes for age at onset together with a single gene for the predisposition of diabetes cannot be distinguished from the data.
Differences between families in the amount of salivary H substances*
Authors: PLATO CHRIS C. , GERSHOWITZ HENRY
Published: September 2007

The saliva ABO inhibition titres of the members of twenty‐eight 0X0 and ten BxO mating types were determined. The results of the examinations suggest that: (1) A precursor ‘H’ substance is formed by all secretors which is converted into A, B, or AB depending on the individual's blood group. (2) the titres of the H substance secreted by members of the same sibship and of the same blood group are very uniform (high intra‐class correlation) indicating genetic control over the amount of the soluble ABO substances secreted. A genetic hypothesis was put forward to account for these findings.
Familial transmission of a translocation between two chromosomes of the 13–15 group (Denver classification)
Authors: WALKER S. , HARRIS AND R.
Published: September 2007

A family has been described in which the transmission of a translocation between two chromosomes of the 13–15 group can be traced through at least three generations. All balanced translocation carriers are apparently normal. A close approximation of a 1:1 ratio of carriers: normal has been found in the offspring from such translocation carriers, and this is compared with published data for the transmission of a 15/21 translocation associated with Down's syndrome. There is no conclusive evidence for the occurrence of trisomy in the family. The data suggest the absence of close linkage between the translocation and the ABO, Rhesus, MNS, ‘P’ and Duffy blood‐group loci.
On the possibility of segregation in the propensity to spontaneous abortion in the human female
Authors: JAMES W. H.
Published: September 2007

A method has been described of studying distributions of spontaneous abortions. For illustration, it has been applied to data which admittedly are not entirely adequate. The data can be fitted neither by single binomial expansions, nor by negative binomials; but they can be fitted by a double binomial. The interpretation is offered that women segregate into a small group of abortion‐prone, and a larger group of abortion‐resistant women. It is hoped shortly to publish details of a study investigating whether proneness to abortion may be an hereditary trait.

This work was supported by a Canadian Federal Mental Health Grant.
The dimorphism in human normal cerumen*
Authors: MATSUNAGA E.
Published: September 2007

Various aspects of the dimorphism in human cerumen have been described on the basis of the data collected mostly by Japanese investigators. It was shown that the ear‐wax types are apparently determined by a simple genetic mechanism, and can be used as a polymorphic system for both genetics and anthropology. Frequencies of the alleles for the ear‐wax types have been estimated for different ethnic groups. It was pointed out that the marked difference in the distribution of ear‐wax types among the major races is probably a consequence of natural selection having acted in a long course of evolution, and there may be some differences in the selective value between individuals with wet cerumen and those with dry. In view of the apparent association with axillary odour, it was suggested that the alleles for ear‐wax types may control certain metabolic processes, through which individuals with different types of oerumen may display different reactions to environmental changes. The need for future studies along this line is stressed.
Galactosemia: A study of twenty‐seven kindreds in North America*
Authors: WALKER FRANK A. , HSIA DAVID YI‐YUNG , SLATIS HERMAN M. , STEINBERG ARTHUR G.
Published: September 2007

The present paper reports on the enzyme studies performed on 421 individuals in twenty‐seven kindreds which include twenty‐nine sibships containing galactosemic individuals.

By fitting normal curves to a group of known heterozygotes (parents) and normal controls, it was possible to establish exclusion limits for each group. The analysis indicates that most heterozygotes can be classified correctly on the basis of enzyme studies. The identification of heterozygotes confirms the previous suggestion that galactosemia is due to an autosomal recessive gene.

In the galactosemic sibships, there was an excess of males over that usually seen in the white population at birth. This effect appeared to be present among both affected and unaffected children and was independent of birth order and parental age.
Family studies of urinary p‐aminoisobutyric acid excretion together with an examination of the urinary excretion levels of glycine, alanine, taurine, and glutamine amongst Chinese in Singapore
Authors: McEVOY‐BOWE E.
Published: September 2007

1. An investigation was carried out of the urinary excretion of β‐aminoisobutyric acid, glycine, alanine, taurine and glutamine amongst 109 Chinese living in Singapore.

2. The frequency distribution histograms of excretion levels for the various amino acids indicated a well denned ‘high’ peak for β‐aminoisobutyric acid, whereas the other amino acids gave essentially unimodal distributions. The distribution histogram for β‐aminoisobutyric acid did not appear to be a bimodal one, as there was a fairly strong indication of a middle peak together with one or more lower ones.

3. Subjects excreting 0–56 m‐moles of β‐aminoisobutyric acid/g. creatinine or more were considered to be ‘high’ excretors. The incidence of such subjects in the population sample taken was found to be 41‐3 %.

4. An examination of the family data with respect to the segregation ratios for ‘low’ and ‘high’ excretors produced evidence in favour of the hypothesis that ‘high’ excretion of β‐amino‐isobutyric acid is determined by a single autosomal recessive gene (P > 0–3).

A special acknowledgement is due to Lim Yen Heng for his technical assistance. This work embodies part of a thesis submitted by the author for the degree of Ph.D. in the University of Malaya.
Data on parental age, sibship size and twins
Authors: STEWART ALICE , BARBER RENATE
Published: September 2007

3751 sibships, selected on the basis of a birth during 1952, were examined from the point of view of parents' ages and birth intervals, and 294 sibships with twin births were examined from the point of view of sibship size.

There were more late marriages and small families in professional than in working‐class families but age differences between parents were not affected by occupational class or sibship size.

Age at marriage and birth intervals were correlated with sibship size, and intervals between the last two births in a sibship tended to be longer than intervals between previous births.

Women who were younger than their husbands had larger families and more twin births than women of the same age who were married to younger men. This difference was capable of producing a spurious association between father's age and the twinning rate.

The recent decline in the perinatal mortality rate has affected twins more than singletons, and first births more than later births.

The sex of twins only affected sibship size if both twins survived; in these cases there were fewer subsequent births if the twins were boys than if they were girls.

The sibship data were collected by Public Health Departments in Northamptonshire and the West Riding (all 1952 births in stated regions); Northumberland, Salford and Coventry (selected births in 1952).
Some possible effects of birth control on the incidence of disorders and on the influence of birth order
Authors: GOODMAN LEO A.
Published: September 2007

Selective limitation of family size will reduce the relative incidence R of a disorder if for different values of i there are differences in the probability pi that a child born to the ith set of parents is affected, and if the size si of the ith sibship (in the absence of affected offspring) is independent of pi. When si=s for all i, R will be reduced more when the criterion of termination is A= 1 (i.e. when the presence of one affected offspring terminates the sibship) than when the value of A is greater than one, and this reduction in R for any value of A (A< s) will increase with increasing values of s. To facilitate the measurement of R under various general conditions, and to assess the magnitude of the effect of selective limitation on R, various formulae are given herein.

The relation between birth rank and the relative incidence of a disorder will be affected by the selective limitation of family size regardless of whether the relation is determined by the control group method, by the Greenwood‐Yule method, or by the Penrose (1934) modification of the Greenwood‐Yule method. With the control group method (where the affected cases are compared with a control group representative of all births) the ‘effect of being first‐born’ will be exaggerated in a positive direction when A= 1 if there is a negative correlation (for each j) between the probability pij‐ that the jth offspring of the ith set of parents is affected and the probability Qoij‐that there are no affected offspring among the first (j ‐ 1) offspring of the ith set of parents. With the Greenwood‐Yule method or the Penrose modification, the ‘effect of being first‐born’ will be exaggerated in a negative direction when A = I; even if this effect is positive when there is no selective limitation, it will appear to be negative when the Greenwood‐Yule method is used with A= 1. To facilitate the measurement of the effect of selective limitation on the ‘birth rank effect’, various formulae are given herein.
Probable linkage between a congenital cataract locus and the Duffy blood group locus
Authors: RENWICK J. H. , LAWLER SYLVIA D.
Published: September 2007

The large family of Nettleship (1909), which manifests one type of congenital cataract, has been studied in a search for linkage. Clinical details are given. By computer analysis, linkage of the relevant gene locus with the ABO, MNS, Rhesus, P, Kell or Secretor loci is rendered unlikely. However, there is a strong indication of close linkage with the Duffy locus; the final probability of linkage, after combination with an a priori probability against linkage, is assessed as 0–977. The extensive data of Mohr (1954), on a different type of cataract (Marner, 1949), are also fully analysed for linkage relationships, but no firm indication of linkage is found with the ABO, MNS, Rhesus, P, Lutheran or Secretor loci. For this type, the final probability of linkage with the Duffy locus is assessed as only 0–02 and it is believed that a different cataract locus is concerned.

Both authors are grateful to Prof. L. S. Penrose for his help and encouragement. We are indebted to Dr A. E. Mourant for most of the anti‐sera used, to Dr D. Lehane and Prof. P. L. Mollison for anti‐Fyα; serum and to Dr B. Chown for anti‐Fy6. Thanks are due to Miss R. Marshall and Miss M. M. Izatt for their help in the blood grouping studies and to Mrs J. Schulze who, with the assistance of Mrs N. Ruth and Mrs D. Martin, organized the linkage calculations most efficiently, using facilities made available by Dr V. A. McKusick, largely from grant RG‐6642 of the National Institutes of Health. Both authors wish to acknowledge the financial support of the Medical Research Council. A Hamblin slit‐lamp was purchased with a grant from the special equipment fund of the University of London. Appendix III has been kindly contributed by Dr C. A. B. Smith.
A genetical and cytological study of repeated spontaneous abortion
Authors: ROWLEY P. T. , MARSHALL RUTH , ELLIS J. R.
Published: September 2007

1. Thirty‐four patients with three or more spontaneous abortions were studied. Among 193 recorded pregnancies, 150 had ended in spontaneous abortion, two in stillbirth, three in neonatal death, and only twenty‐nine in surviving infants.

2. Analysis of variance and sib‐sib correlation showed that a given patient tended to miscarry at about the same time in different pregnancies. Spontaneous abortion was most common between the tenth and the twelfth week; there was a lesser peak between 20 and 26 weeks. There were twenty‐five patients in the early group, six in the later group, and three not easily classified.

3. The sex ratio for the live births was 0–94.

4. The sibships of the patients and their husbands were not smaller and did not have significantly higher abortion rates than the general population.

5. None of the patients' matings were consanguineous. One husband's parents were first cousins.

6. The blood group types Ms and MNs were slightly commoner than expected among the patients. Otherwise, blood group frequencies did not show any significant peculiarities. No excess of serologically incompatible matings was found.

7. Chromosome analyses in leucocytes from peripheral blood were made for twenty‐two of the patients and eight husbands. The only abnormality detected was a large F‐chromosome in one husband.

The authors are indebted to Prof. L. S. Penrose, F.R.S., for encouragement and advice; to Prof. W. C. W. Nixon, F.R.C.O.G., for permission to study the patients in the Obstetric Department, University College Hospital; to Miss Barbara J. Warland, for enlisting the patients' co‐operation; to Dr E. S. Shalom, University College Hospital Medical School, for performing the protein‐bound iodine determinations, to Dr E. B. Robson for serum analysis of patient 3 and to Miss Linda Gorman, for technical assistance.

One of us (P. T. R.) was a Donner Foundation–National Research Council Fellow in Academic Medicine during this investigation and gratefully acknowledges their support.
Quantitative analysis of finger ridge counts of the Parsi community in India
Authors: MAVALWALA JAMSHED
Published: September 2007

Total finger ridge counts of 200 Parsi males and 200 Parsi females were analysed. They do not display a significant sex difference, the mean value for total ridge counts in males being 139·805 (S.D. = 45·39) and for females the value being 135·905 (S.D. = 41·27).

Mean ridge counts and their distributions are presented. They tend to conform generally to data from other sources but the males do not markedly have many more ridges.

The right/left differentiation is not distinct.

Among the European populations compared with the present sample, the Parsi females differ from all the others, whereas the males do not do so. Further comment must await more data.
Parent‐child correlations for body measurements of children between the ages one month and seven years
Authors: TANNER J. M. , ISRAELSOHN W. J.
Published: September 2007

Measurement of height, weight, sitting height, biacromial and bi‐iliac diameters, bicondylar diameters of humerus and femur, upper arm circumference, and four skinfolds have been taken on a pure longitudinal series of 117 children at intervals from 1 month to 7 years, on the mothers of all of them and on the fathers of 57. The father‐son, father‐daughter, mother‐son and mother‐daughter correlation coefficients have been calculated at successive ages of the children.

Most of these measurements show a steep rise in parent‐offspring correlation from the order of 0–2 at 1 month to the order of 0–4 at 2 years; from 2 to 7 a very gradual rise continues. Weight is an exception, the correlation being highest at 1 month, lowest at 9 months and subsequently rising. The parent‐offspring correlation for skinfolds from 3 to 7 years is only about 0–1, which does not differ significantly from zero.

The mother‐daughter correlations for supine length in this age range are significantly above the mother‐son correlations. The same may also be true for weight after age 1, though the statistical significance is not fully established. In bi‐iliac and biacromial diameters no such sex difference occurs. The father‐son coefficient is greater than the father‐daughter coefficient for supine length, though not to a significant degree. The father‐son coefficient for biacromial diameter from 4 to 7 years is significantly above the father‐daughter coefficient.

The conclusion is drawn that there are sex‐controlled genes affecting physique operating even before puberty. As there are usually supposed to be no mother‐daughter, mother‐son, etc., correlation differences in adulthood, the question is raised as to when and how these differences may be eliminated from 7 to 17 years. The published adult figures are also reexamined, with the conclusion that the supposed equality of the four parent‐child coefficients is much less securely based on evidence than is generally thought.

There is a statistically significant correlation between skeletal maturity as assessed from wrist X‐rays at ages 3 and 5 of sons and the height of their mothers. Thus tall mothers have advanced sons; but they do not have advanced daughters. Similarly tall fathers have somewhat advanced daughters, but not sons. The cause of these correlations is not yet clear; in the adult there is no positive correlation between height and previous advancement in maturity.
Two cases with a C‐group ring autosome
Authors: ATKINS L. , PANT SHYAM S. , HAZARD G. W. , OUELLETTE EILEEN M.
Published: September 2007

Two boys with a C‐group ring autosome, one 81/2 and the other 21/2 years old, are described. The older boy, who had microcephaly, muscular hypotonia and poor co‐ordination as well as mental and physical retardation, had an additional chromosomal anomaly in the form of a presumed translocation involving a B‐group chromosome and a fragment of the C‐group autosome from which the ring was derived. The younger boy showed only retardation of mental and physical development.

This investigation was supported by U.S. Public Health Service Research Grant no. NB‐04662 from the National Institute of Neurological Diseases and Blindness. We are indebted to Dr Lyn Konugres of the Blood Grouping Laboratory, Boston, for the erythrocyte antigen, haptoglobin and transferrin studies. The technical assistance of the Misses Ida Leone, Mary Hauck. Susan Fletcher, Charlotte King, and Mrs Bettina Hirsch is acknowledged.
The effect of partial exclusion of certain matings and restriction of their average family size on the genetic composition of a population
Authors: BARKER J. S. F.
Published: September 2007

For a genetic disease due to homozygosity for a recessive gene, defective individuals would be eliminated from the population by exclusion of marriage between heterozygotes, or by ensuring that the reproductive value of such marriages was zero.

With partial exclusion of heterozygote marriage, the frequencies of the deleterious gene and of heterozygotes will increase to a new higher equilibrium value. The frequency of defective individuals will be reduced to a minimum in the first generation, but the frequencies of heterozygote marriages and of defective individuals will then increase until at the new gene‐frequency equilibrium they have the same values as in the initial population.

Where there is partial exclusion of heterozygote marriage, and a reduced reproductive value of such marriages as do occur, the gene frequency may either increase or decrease, but, for any decrease in the reproductive value, the frequencies of heterozygote marriage, and of defective individuals, will decrease.

The optimum eugenic proposal, then, would entail minimization of the family size in heterozygote marriages.

I am grateful to Dr B. L. Sheldon and Mr J. W. James for helpful comments.