bluuebunny/crossref_metadata_2025 huggingface dataset:
On a method of estimating frequencies using the negative binomial distribution
Authors: EDWARDS A. W. F.
Published: September 2007

In the estimation of small frequencies by counting until a certain number of affected individuals has been counted, it is shown that the most satisfactory method is to estimate the reciprocal of the frequency. In all circumstances the total number of individuals counted divided by the total number of affected individuals counted is a sufficient estimate which is approximately normally distributed when the total number of affected individuals counted exceeds one hundred.
A theory of DNA replication
Authors: PENROSE L. S.
Published: September 2007

The general theory of replication of a single‐chain structure with specified length is discussed. The principles, which emerge from considering this question in the abstract or with the help of experimental machines, are applied to the problem of DNA replication. A chemical hypothesis is outlined which differs radically from that which is generally accepted at the present time.
The rate of spontaneous sex‐linked mutations and the doubling dose in man
Authors: FROTA‐PESSOA O. , SALDANHA P. H.
Published: September 2007

A method is presented by which the spontaneous rate of mutations for recessive sex‐linked detrimentals in man may be estimated from the recorded excess of male over female deaths during uterine life. By applying this method to data collected by Stevenson (1959) an estimate of 0–0068 is reached for the frequency of mutations to sex‐linked detrimentals which act between the third week after conception and birth. The elimination caused by 1 rad of irradiation is estimated as being 0–000052 on the basis of data by Lejeune & Turpin (1957) and Schull & Neel (1958). From these estimates it is calculated that (a) 192 rad would be needed to double the natural elimination in the generation following irradiation, (b) 68 rad is an overestimate or upper limit for the doubling dose, and (c) assuming 0–5 as the average selective disadvantage for sex‐linked recessive detrimentals the doubling dose is 34 rad. A number of causes of error are discussed.
Serum gamma globulin groups in Japanese
Authors: BOYER SAMUEL H. , ISEKI SHOEI , MAYEDA AKIRA
Published: September 2007

Serum gamma globulin (Gm) groups were determined for 262 Japanese. The resulting allele frequency estimate for Gma was 0–885 and for Gmb 0–115. Some reservation is necessary in accepting these estimates at face value because of failure to observe any Gm(a ‐ b +) individual.

There was no significant difference in the Gma and Gmb frequencies between normal Japanese subjects and Japanese with rheumatoid arthritis.

An attempt was made to detect new Gm factors in the American population by the use of sera from Japanese rheumatoid arthritis. The attempt was based on the assumptions that effective typing sera from rheumatoid arthritics must lack the Gm factor sought, that such typing sera must be very rare in populations where the Gm factor in question is common, and that ethnic differences in Gm allele frequencies extend to undetected alleles. The attempt failed; however, the method of approach may be of value to future investigators.

We wish to offer our thanks for the provision of sera from American‐born Japanese children to Dr Stanley Wright, University of California at Los Angeles, School of Medicine.

This investigation was supported in part by Grant no. B2053 from the National Heart Institute, the National Institutes of Health, Bethesda, Maryland.
Chromosomal mosaicism in a case of Klinefelter's syndrome associated with thalassaemia
Authors: CRAWFURD M. D'A.
Published: September 2007

An unusual chromosomal constitution, XXxY/XXY, with both mosaicism and a probable partial deletion of an ‐X‐chromosome is reported in a case of Klinefelter's syndrome associated with severe thalassaemia. Evidence is submitted for regarding the association as coincidental.

The literature regarding chromosomal constitution in Klinefelter's syndrome is reviewed and the possible mechanisms by which the constitution might have arisen in this patient are discussed.

This work was carried out whilst holding a grant from the British Empire Cancer Campaign.

I am grateful to Dr E. R. Huehns for some of the haematological investigations and for helpful discussion and to Mrs Joy Delhanty for assistance with the skin culture.

I would also like to thank Prof. L. S. Penrose and Dr T. A. J. Prankerd for reading the manuscript and the latter for permission to study this case.
Haptoglobin frequencies in Jewish communities*
Authors: GOLDSCHMIDT E. , BAYANI‐SIOSON P. , SUTTON H. E. , FRIED K. , SANDOR A. , BLOCH N.
Published: September 2007

Haptoglobin and transferrin types have been determined by starch gel electrophoresis on blood from 929 subjects belonging to various Jewish communities.

The frequency of the Hp1 gene in 499 Ashkenazic Jews is 0.29 and does not differ significantly from the value of 0–26 found in 345 Jews of Oriental origin. The Hp1 frequency of Ashkenazic Jews is significantly lower than that reported for the autochthonous populations of Central and Western Europe. Two small samples collected among Sephardic Jews and among the offspring of intercommunity marriages exhibit somewhat higher frequencies of the Hp1 gene.

The modified 2‐1 phenotype was found in a single subject from Baghdad. There were three cases of ahaptoglobinaemia among Ashkenazic Jews and three among the Oriental groups. No ahaptoglobinaemia was discovered in a family sample of ninety‐two Jews from Kurdistan among whom thalassaemia minor was common and the majority of whom were affeeted with G‐6‐P‐D deficiency.

All transferrins were of type C.
Differential inhibition of the serum cholinesterase phenotypes by solanine and solanidine
Authors: HARRIS H. , WHITTAKER MARY
Published: September 2007

Solanine and solanidine inhibit differentially the serum cholinesterase of individuals of the ‘usual’, ‘intermediate’, and ‘atypical’ phenotypes. The effect is similar to that obtained with dilute aqueous extracts of potato.
Secretors of ABH antigen in a central Swedish population
Authors: NERELL GUNNAR
Published: September 2007

An investigation has been carried out on the frequency of secretors and non‐secretors respectively in a central Swedish population. Out of 2093 individuals tested, 1631 proved to be secretors and 462 non‐secretors, corresponding to a frequency of the recessive se‐gene of 0.4698. The theoretical elimination frequency in paternity cases is shown to be 0.0286. Comparisons have been made with previously published population frequencies, by which a statistically significant difference was demonstrated between the population under investigation and a Danish population.

The author expresses his thanks to med. and fil. kand. Lars Bjerkenstedt for collecting the samples, and med. and fil. kand. Ralph Posener for assistance in the routine serological work.
The association of satellited chromosomes with specific chromosomal regions in cultured human somatic cells
Authors: FERGUSON‐SMITH M. A. , HANDMAKER S. D.
Published: September 2007

The associations of satellited chromosomes with other chromosomes have been determined in photomicrographs of 423 human somatic cells in mitosis. It is found that the frequency with which a satellited chromosome lies in juxtaposition to a particular chromosome is not purely a function of the length of that chromosome (as might be expected if the assumption were true that satellited chromosomes are distributed at random throughout the cell.) The non‐random distribution of satellited chromosomes uncovered by the study is attributed to associations at specific chromosome regions. The most common association was the well‐known and often multiple one occurring between the short arms of satellited chromosomes. A relatively high frequency of associations also occurred between the short arms of satellited chromosomes and specific non‐satellited regions of chromosomes 2, 6, 18, 19, 21 and/or 22. Much less frequent associations occurred also with specific regions of chromosomes 1, 3 and 17. A feature common to all significant associations is that they tend to occur close to sites where secondary constrictions have been demonstrated. This finding suggests that these associations may indicate the position of active nucleolus‐organizer sites. It is also postulated that chromosome associations are the result of nucleolus fusion during interphase. Evidence from organisms other than man is presented in support of the hypothesis that a tendency to chromosome association between ‘nucleolar chromosomes’ may be a general phenomenon.

The possible implications of chromosome association with respect to the aetiology of human chromosomal aberrations is discussed.

The writers are grateful to Dr James H. Renwick for suggestions on the presentation of the data, and to Marie E. Ferguson‐Smith for preparing the figures. This investigation was supported in part by Research Grant 7841 from the Division of General Medical Sciences, the United States Public Health Service.
Pattern of correlations in the skeleton of the growing hand
Authors: HEWITT DAVID
Published: September 2007

From radiographs of the hand taken at the age of 2 years the lengths of nineteen bones were determined for each member of ninety‐nine sib pairs. An attempt was made to account for the variation of these lengths in terms of additive contributions from a general factor, group factors (one for each finger and one for each row) and special factors (one for each bone). The analytic model proved to be inadequate because of relatively high correlation between bones in the same neighbourhood, whether or not they belong to the same finger or row. Terminal phalanges were estimated to have a relatively low degree of integration with the hand as a whole and with stature, but a high degree of sib resemblance. A special study was made of the medial phalanx of the fifth finger, leading to the suggestion that this bone is involved in a common finger deformity because it is hyper‐responsive to general growth factors.

The Oxford Child Health Survey is supported by a grant from the Medical Research Council.
Frequency of colour blindness among the tribal and non‐tribal peoples of Andhra Pradesh
Authors: DRONAMRAJU K. R. , KHAN P. MEERA
Published: September 2007

A survey of colour blindness, using Ishihara plates (1960), in the tribals and non‐tribals, i.e. Hindus, Christians and Muslims, showed that 6‐5 % of the men among the non‐tribals, and 2–5 % among the tribals were colour blind. This difference is explained as due to relaxation of selection against colour blindness in the civilized communities. Out of 1155 tribals tested in the Polavaram Agency area of Andhra Pradesh, 966 were Koya Doras, 61 Konda Reddis, 51 Sugalis, 44 Koya Kammaras, 24 Pandava Nayakas, 6 Konda Rajus, and 3 Koya Musaras.

We are grateful to Prof. J. B. S. Haldane, F.R.S. for his suggestions and financial help.

An investigation of this nature could not have been carried out without the help of numerous people among whom we would especially like to mention the Karanam of Kondrukota, Mr K. Sarweswara Rao, Mr M. V. Krishna Rao, Mr I. Vasanta Kumar, and Mrs P. Meera Khan.
Frequency of colour blindness in Orissa
Authors: DRONAMRAJU K. R.
Published: September 2007

Twenty­five out of 504 Oriya males and one out of seventeen Nepali males were judged to have abnormal colour vision. The percentage of protans among the Oriyas was found to be 1­98 and deutans 2­78.

I have to thank Professor J. B. S. Haldane, F.R.S., for suggesting the work, and for his encouragement and advice; Messrs M. R. Shastry and P. Srihari Rao for their able assistance; the Principal and hostel authorities of Utkal Krushi Mahabidyalaya, Bhubaneswar, the Principal of the Gramsevak Training Centre, Bhubaneswar and officials of the Tribal Welfare Department, Government of Orissa, for making arrangements for me to obtain data.
A genetical study of goitre
Authors: FRASER G. R.
Published: September 2007

A family study was performed of fifty­seven male patients who had undergone thyroidectomy for toxic or non­toxic goitre. In six or more of the thirty­one patients with non­toxic goitre there were suggestions that recessive or dominant inborn errors in iodine metabolism were present as the cause of the disease. Genetical determinants of a more complex nature undoubtedly contribute towards the pathogenesis of other cases of non­toxic goitre and of cases of primary thyrotoxicosis. It is suggested that secondary thyrotoxicosis may represent a mixture of cases in some of whom hyperactivity supervenes in a pre­existing goitre, while in others the aetiology is similar to that of primary thyrotoxicosis.

A further small series of nine patients was studied where the diagnosis of carcinoma of the thyro'd was followed by survival of 3 years or more. A proportion of such cases probably represents the results of recessive or dominant inborn errors of iodine metabolism in whom lifelong thyrotrophic stimulation produces a histological picture suggestive of malignant change.

This small series does not confirm the suggestion of earlier investigations that tasting status to phenylthiocarbamide is of importance in the pathogenesis of thyroid disease. The sex chromatin pattern was studied in nineteen infertile members of the male thyroidectomy series. This resulted in the discovery of one individual with non­toxic goitre who had forty­seven chromosomes and an XX Y sex chromosome complement.

It would seem indispensable that further family studies should be supplemented by full laboratory investigations of propositi and their relatives, including routine thyroid function tests, auto­antibody estimations and in appropriate cases biochemical studies of thyroxine synthesis, liberation, and transport.

In an Appendix family studies in areas of endemic goitre in Yugoslavia are discussed in relation to the aetiology of this condition.

I should like to thank the following persons who made this study possible. Mr A. S. Till kindly allowed me access to the patients who had had thyroidectomies under his care at the United Oxford Hospitals. Dr F. Ellis helped me to trace the cases of carcinoma of the thyroid with long survival who had attended the Radiotherapy Department of the United Oxford Hospitals. Dr W. R. Trotter permitted a series of male thyrotoxic patients attending his clinic at University College Hospital to be seen. Dr O. J. Miller, Dr M. Fraccaro, Dr M. Glen­Bott and Mrs A. Webster helped in the sex chromatin and chromosome studies. Miss S. Barnett, Miss K. Major and Miss R. Mason made many of the family visits.

Finally, I should like to thank Professor Gusic, Professor Kesic, Dr Ferber, Dr Grunwald, Dr Maver and Dr Sestak of the Faculty of Medicine in the University of Zagreb who arranged for the family visits in Yugoslavia.
Presumptive iso­chromosomes for the long arm of X in man. Analysis of five families
Authors: LINDSTEN J. , FRACCARO M. , IKKOS D. , KAIJSER K. , KLINGER H. P. , LUFT R.
Published: September 2007

The cytological study of five female individuals is indicative of the existence in man of iso‐chromosomes for the long arm of the X chromosome. Phenotypically these subjects are characterized by primary amenorrhoea, short stature, elevated excretion of gonadotropins and low excretion of oestrogens in urine.

Laparotomy revealed in two of them gonadal streaks. Analysis of dermatoglyphics showed patterns similar to those found in XO individuals.

The five subjects are sex chromatin positive in buccal mucosa smears and in cultured cells, and drumsticks are found consistently in their neutrophils. The karyotypes of the five patients are consistent in their appearance in all the cells with forty­six chromosomes from different tissues bone marrow, skin and blood there are fifteen chromosomes in the 6­12­X group instead of sixteen, and an extra metacentric chromosome similar to those of pair no· 3. These cells are interpreted as having one normal X chromosome and a presumptive iso­chromosome for the long arm of X. In one or more of the tissues cultured from patients A.S., L.A. and B.J. there is a proportion of cells with forty‐five chromosomes and with an XO constitution.

The origin of the iso‐chromosomes is thought to be meiotic and paternal. This hypothesis is discussed on the basis of an apparent deficiency of females in the sibships of the patients and of the genetical information provided by the study of the sex‐linked Xg blood group system in the family of B.J. This family, in which red‐green colour blindness is segregating, provides also evidence that the Xg and the red‐green colour blindness loci are located on the short arm of the X chromosome.

Personal, family and laboratory data are provided in Appendices, together with the cytological data and chromosome measurements.

The writers wish to express their gratitude to all those who cooperated in this investigation. In particular they would like to thank Sarah B. Holt, I. Kugelberg, L. S. Penrose, R. R. Race, A. Remeck, Ruth Sanger, M. Svenmar, Anita Tillberg. They would specially mention the kindness of C. E. Ford who critically reviewed the manuscript.

This research has been aided in part by grants from ‘Solstickans fund för forskning rörande kroniska och invalidiserande sjukdomar hos barn’ and by a personal grant to R. Luft from the Knut and Alice Wallenberg Foundation.
Deficiency of erythrocyte glucose‐6‐phosphate dehydrogenase in Greek populations
Authors: ALLISON A. C. , ASKONAS B. A. , BARNICOT N. A. , BLUMBERG B. S. , KRIMBAS C.
Published: September 2007

Erythrocyte glucose‐6‐phosphate dehydrogenase has been measured on samples from 665 males from different parts of Greece.

High proportions of enzyme‐deficient subjects were found in some regions, notably the Chalkidhiki peninsula and the island of Rhodes.

The incidence of enzyme deficiency in different populations shows a positive correlation with the incidence of abnormal haemoglobin genes, as would be expected if all the genes are favoured by malarial selection.

We are indebted to various Greek colleagues who facilitated the collection of blood or providec helpful discussion, including Prof. G. A. Deliyannis and Dr A. Ballas, Salonika, Dr Limberis and Prof. K. B. Choremis, Athens, and Dr G. Kypriotis, Rhodes. The work was supported by the Section on Geographic Medicine and Genetics, National Institute of Arthritis and Metabolic Diseases, Bethesda, Maryland.
A family study of Hirschsprung's disease
Authors: BODIAN MARTIN , CARTER O. O.
Published: September 2007

Family data are reported on 207 index cases, in 203 families, attending The Hospital for Sick Children from July 1948 to December 1959 with Hirschsprung's disease. Of these 82% were of the ‘short‐segment’ variety, 17 % of the ‘long‐segment’ variety and 2 (1 %) were of the very long‐segment variety extending to the duodenojejunal junction.

The incidence of all varieties in the general population is estimated to be between 1 in 2000 and 1 in 10,000 total births.

The overall sex ratio is 3–6 but this decreases with the length of aganglionic segment, being 1–5 for long‐segment cases and 4–7 for short‐segment cases.

There is no effect of maternal age and birth order.

The only associated malformation is Down's syndrome, which was present in 3 of the 207 index patients.

Parental consanguinity was found only once in the series.

A male monozygotic twin pair were both index patients. Three surviving dizygotic co‐twins of index patients were unaffected.

Thirteen sib pairs were concordant for the length of aganglionic segment.

The proportion affected of sibs of short‐segment cases was 9 in 173 brothers, and 1 in 145 sisters, and of long‐segment index cases 5 in 35 brothers and 3 in 28 sisters.

Two children of index patients were both unaffected. One uncle, two nephews, and five first cousins were affected. The two nephews were exceptional in that they were long‐segment cases while the index patient was a short‐segment case.

It is suggested on the analogy of the experimental work of Yntema & Hammond with the chick embryos, that the development of Hirschsprung's disease is due to a partial interference with the migration of neuroblasts from the lower cranial‐upper cervical neural crest to the gut wall.

No simple hypothesis may yet be put forward as to the nature of the genetic factors predisposing to Hirschsprung's disease.

We wish to thank the consultant staff of The Hospital for Sick Children for access to their patients, the staffs of the hospitals mentioned in Appendix B, for supplying information about, and sending histological material from, patients* relatives, and Dr J. A. Fraser Roberts for helpful criticism. We are greatly indebted to Miss A. R. Buck for most of the home‐visiting of the families and her help with the analysis.
Genetic aspects of angiokeratoma corporis diffusum
Authors: JOHNSTON A. W. , WARLAND B. J. , WELLER S. D. V.
Published: September 2007

The genetic data on two new families with angiokeratoma corporis diffusum are recorded. The first pedigree extends over five generations. Six males are known to be affected in the three most recent generations, and possibly three more in the two previous ones. The mode of inheritance is consistent with a sex‐linked gene. This is confirmed by the occurrence of colour blindness and informative Xga findings in one section of the family, suggesting that the angiokeratoma locus may lie between those for Xg and deutan.

Prof. C. E. Dent kindly drew our attention to the original probands in family A and Prof. M. 1,. Rosenheim to the one in family B. We should like to thank Dr Ruth Sanger for carrying out the Xga studies and for her comments on the results, and Mr D. P. Greaves for the ophthal‐mological assessments. Dr P. C. Farrant invited us to see case IV. 38 in family A and Prof. A. G. Watkins informed us about V. 16. We are also grateful to a number of other doctors and hospitals who have supplied us with additional information.
Inheritance of marker chromosomes from a cytogenetic survey of congenital heart disease
Authors: MOORES ELIZABETH C. , ANDERS JANET M. , EMANUEL RICHARD
Published: September 2007

The inheritance of marker chromosomes was investigated in six families found during a survey of 250 cases of congenital heart disease. Distinctive morphological variation was seen in chromosomes 9, 16, 17 and members of the 13–15 group. It was thought that the variation occurred at sites of secondary constrictions and was due to inherited alteration in behaviour of these hetero‐chromatic regions. In each family the marker chromosome was observed in two or more generations and was present in clinically normal relatives. They were similar to variants reported in the general population and were considered to be unrelated to congenital heart disease.
The XY bivalent in human male meiosis
Authors: HULTÉN MAJ , LINDSTEN J. , MING PEN‐MING L. , FRACCARO M.
Published: September 2007

The X Y bivalent could eady be recognized in diakinesis and first metaphase in air‐dried preparations. The X and Y were clearly separated in varying proportions of these cells but probably more often in cells in the later stages. No chiasma could be demonstrated with certainty between X and Y. The Y chromosome had in some cells a clear constriction at its distal end which might indicate the centromere, and it was often bent in a characteristic way. The X chromosome was also typically bent in some cells, and sometimes demonstrated one less contracted part close to the Y and one contracted and irregularly curved distal part. It is tentatively suggested that the long arm of Y is associated with the short arm of X. The point is stressed that the problem of the existence of homologous sections of the X and Y chromosomes in man cannot be solved by present cytological observations in the absence of genetical evidence.
Human meiosis: the occurrence of interlocked bivalents in a normal male
Authors: Mcdermott A.
Published: September 2007

The mitotic and meiotic chromosomes of a healthy 65‐year‐old man, ascertained from a survey of surgically removed testes, were investigated. A method for preparation of meiotic chromosomes from testicular material is described.

A pair of interlocked bivalents was observed in 9 of the 54 diakinesislearly metaphase I cells examined. This was considered an abnormally high frequency to be explained as the result of a chance event. It is suggested that the chromosomes concerned are derived from those numbered 1–3 and 13–18 in the Denver system.
The linkage relation of Xg to g‐6‐pd in Israelis: the evidence of a second series of families
Authors: ADAM A. , TIPPETT PATRICIA , GAVIN JUNE , NOADES JEAN , SANGER RUTH , RACE R. R.
Published: September 2007

The loci for Xg and for glucose‐6‐phosphate dehydrogenase are not within direct measurable distance of each other. Analysis of two‐generation data for a previous series of Israeli families strongly suggested that linkage was measurable, but massive three‐generation data from Sardinia contradicted this and stimulated the collection of a second series in Israel, this time confined mostly to three‐generation families. The two Israeli series combined now agree with the Sardinian series in showing no evidence of direct measurable linkage.
Sex‐linked genes in man and the Lyon hypothesis
Authors: GRÜNEBERG HANS
Published: September 2007

Out of a total of 60 sex‐linked or probably sex‐linked genes in man, 34 have no known effects in the heterozygous condition, and in another 4 the known effects are of a humoral kind and hence cannot give any information concerning the Lyon hypothesis (l.h.). Of the remainder, 17 genes have known or suspected effects in heterozygous women which are multicellular in nature; though these could, in principle, give rise to the patchwork mosaic manifestation demanded by the l.h., there is not a single really plausible case amongst them and none which can be so interpreted without various ad hoc assumptions. The claim that the heterozygous phenotype of several of these conditions supports the l.h. can thus be shown to be without foundation. In the remaining five conditions, effects on the cellular level have been identified. In one of them (Xg), there is no evidence for the existence of two red cell populations in heterozygous women. Evidence for the existence of two distinct cell populations comes mainly from G‐6‐PD deficiency and, in a less complete form, from agammaglobulinaemia and Hurler's syndrome. In the first of these, the ‘ mosaic’ is so fine grained as to be difficult to reconcile with the l.h., which postulates inactivation early in embryonic life. Moreover, there is evidence that this phenomenon is not confined to sex‐linked genes, but occurs similarly in autosomal conditions. It is concluded that the behaviour of sex‐linked genes in man (like that in other mammals) gives no support to the Lyon hypothesis.
A statistical study of intrauterine selection factors related to the ABO system
Authors: PERITZ ERIC
Published: September 2007

An analysis of ABO blood‐type data on 3817 live births and their parents yielded the following main findings.

A deficiency of type‐A heterozygotes in the offspring. (This might be due to errors in typing.)

An excess of type‐B heterozygotes in compatible matings.

The incompatibility effect between type‐B offspring and type‐O mothers.

I wish to express my deep gratitude to Profs. Y. Yerushalmy and C. Stern for their constant help and advice. Thanks are also due to Profs. S. Nissen‐Meyer, E. R. Dempster and D. Black‐well for their kind encouragement and to Miss L. Milkovitch, Miss s. C. Stevens and Mr W. Quinn for their assistance in obtaining the data and preparing the tabulations.
Haemoglobin Bart's hydrops foetalis in Thailand*
Authors: POOTRAKUL S. , WASI P. , NA‐NAKORN S.
Published: September 2007

Haemoglobin Bart's hydrops foetalis is prevalent in Thailand. A total of fifteen such cases were investigated. The parents were mostly Thais and Chinese. The gestation periods varied between 7 and 10 months. Thirteen were dead in utero and the other two died within 15 min. of delivery. Ten were female and five were male. All were anaemic and oedematous with enlarged and friable placentae, and had massive hepatomegaly. The average values of haematological findings are: haemoglobin concentration, 6.77 g. %; red‐cell count, 2.93 millions/mm.3; packed red‐cell volume, 40.5%; mean corpuscular volume, 140.6 micra3; mean corpuscular haemoglobin, 24.8μμg.; mean corpuscular haemoglobin concentration, 18%. Blood smears showed hypochromia, microcytosis, macrocytosis, target cells, anisocytosis, poikilocytosis, and numerous nucleated red cells. Intraerythrocytic inclusion bodies were found in a few red cells in most cases. Sickling was positive in five out of eight cases. In every case haemoglobin Bart's comprised almost all of the haemoglobin, only trace amounts of haemoglobins A+F being present. A small amount of haemoglobin H was detectable by starch gel in three cases. Average alkali‐resistant haemoglobin was 42.3%.
DNA replication analysis of six 13–15/21 translocation families
Authors: MIKKELSEN MARGARETA
Published: September 2007

Autoradiographic investigations of nine individuals from six different 13–15/21 translocation families revealed that in five of the families a 14/21 translocation occurred, while the translocation in one family was probably of 15/21 type. As the family with the 15/21 translocation was too small, it was impossible to compare the segregation rates in the two translocation types.
Microspectrophotometry in the study of red hair
Authors: NICHOLLS E. M.
Published: September 2007

Microspectrophotometry has been used to define red and brown hair pigments in man. Comparisons have been made between red pigments examined by this method and pigments which have been extracted by various means. There is some evidence that methods of extraction of pigments from hair may cause substantial alteration in character of the pigments. Comparisons have been made between microspectrophotometry and reflectance spectrophotometry and it is thought that the former is the more sensitive method for the study of hair pigments. Evidence has been obtained that red hair is a separate and definable phenotype and not part of a continuous distribution of colours including black and brown. The mosaicism which can occur in both red‐ and brown‐haired subjects has been studied and a genetic hypothesis relating to this mosaicism is discussed.
Patients with sex chromatin abnormality in two state hospitals
Authors: CASEY M. D. , SEGALL L. J. , BLANK C. E.
Published: September 2007

The incidence of sex‐chromatin subnormality in two special hospitals for subnormal patients requiring special security on account of violent and aggressive behaviour was found to be significantly higher than the incidence in other institutionalized populations of the mentally subnormal. It is suggested that two factors account for this raised incidence: the higher mean intelligence level in the special hospital population, and the high proportion of sex‐chromatin‐positive males in these hospitals with an additional Y chromosome.

We thank Dr J. N. McDougall, Medical Superintendent of Moss Side Hospital, for permission to study the patients in his care and the Medical and Nursing Staffs of Rampton and Moss Side Hospitals for their full co‐operation. This investigation was supported in part by a grant from the National Spastics Society.
Some complications of the use of the three‐generation method in the estimation of linkage relationships on the X chromosome in man
Authors: FRASER G.R.
Published: September 2007

The direct method of estimating linkage values between loci on the X chromosome based on families containing three generations (grandfather, mother, grandsons) is simple and satisfactory. Because some potentially informative families cannot be scored, however, under certain conditions of ascertainment, the proportion of recombinants among the grandchildren does not give rise to an unbiased estimate of the linkage value. The nature and extent of these biases are defined and it is shown that they are, in general, small. A simple method for their correction is outlined.
General purpose probability models in histocompatibility testing
Authors: C. ELANDT‐JOHNSON REGINA
Published: September 2007

General probability models for finding the proportions of compatible and incompatible pairs donor‐recipient, in populations in equilibrium in respect of several histocompatibility loci, are derived. The cases when (i) all loci are only ‘strong’ or ‘weak’, (ii) some loci are ‘strong’, some ‘weak’, (iii) there are loci with ‘strong’ and ‘weak’ alleles at the same locus, (iv) combinations of (i), (ii) and (iii), are considered.

Some of these cases are compared among themselves and with a single locus with multiple alleles, when only one gene dose, double gene dose or two different gene doses of antigen incompatibilities occur. A few models for populations of unrelated pairs, siblings and parent‐child combinations have been worked out numerically.
On the theory of selection dependent on two loci
Authors: MORAN P. A. P.
Published: September 2007

A, a are alleles at one locus. Considered on their own, other alleles being fixed, they display heterosis, so that there exist unique stable equilibrium values p, q for their respective gene frequencies. Let B, b be a second pair of heterotic genes at a second locus, with equilibrium frequencies P, &. Consider models in which the fitnesses are multiplicative (or additive), i.e. the fitness of, for example, AaBB is taken to be the product (or sum) of the fitnesses of Aa and BB considered singly. Assume random mating and separate generations, and the population sufficiently large for random fluctuations to be ignored. Then it is shown that if the recombination fraction between the loci does not differ too much from 1/2, and if all four alleles are originally present in the population, then the population does tend (as might be expected) to a stable equilibrium in which the gene frequencies of A, a, B, b are respectively p, q, P, Q. But this may not happen when linkage is close.
Radioautographic identification of the D chromosomes involved in the centric fusion type of D/G translocation, t(DqGq)
Authors: CAPOA A. DE , BREG W. R. , KUSHNICK T. , MILLER O. J.
Published: September 2007

Radioautographic studies of five individuals with a D/G translocation have shown that in three of them the D‐group chromosome involved was a no. 14 and in two a no. 15.
Anencephalus: variation with maternal age, parity, social class and region in England, Scotland and Wales
Authors: FEDRICK JEAN
Published: September 2007

The analysis of 491 singleton anencephalic births compared with 16,994 control births has revealed several independent trends within the United Kingdom: (i) There is a strong regional distribution. (ii) There is a rise in incidence with falling social class. (iii) There is a maternal age/parity distribution, whereby the older the primipara the lower is the incidence, but the older the multipara, the higher the incidence.
Thermostability studies on the isozymes of human phosphoglucomutase
Authors: McALPINE P. J. , HOPKINSON D. A. , HARRIS HARRY
Published: September 2007

1. A new method for investigating the heat‐stabilities of isozymes is described. Using this method it has been shown that the relative thermostabilities of the isozymes determined by the separate phosphoglucomutase (PGM) loci are PGM2 > PGM1 > PGM3. This conclusion has been confirmed by conventional heat‐stability experiments.

2. No interallelic or intra allelic stability differences were detected between the isozymes determined by the two common alleles PGM12 and PGM21at the PGM1 locus, between PGM12 and PGM22at the second locus or between PGM13 and PGM23 at the third locus. The isozymes determined by a very rare allele (PGM41) appear to be relatively less stable than the isozymes determined by either PGM11or PGM21.

3. Comparison of the PGM isozyme patterns in red cells and other tissues suggests that the in vitro differences in thermostabilities between the isozymes of the separate loci are a true reflexion of the in vivo stabilities of PGM.

4. Promising results obtained with other enzymes suggest that the new method used in the heating experiments on PGM may be a useful general procedure for the investigation of other genetically determined differences in isozyme thermostability.
The investigation of reactive sulphydryls in enzymes and their variants by starch‐gel electrophoresis: studies on the human phosphohexose isomerase variant PHI 5‐1
Authors: HOPKINSON D. A.
Published: September 2007

The effects of six different thiol reagents on the electrophoretic behaviour of the isozymes of the human red cell PHI 5‐1 variant have been investigated. The results support the previous suggestion that the PHP allele codes for a polypeptide in which a reactive cysteine residue has been substituted for a particular neutral amino acid residue.
Short‐arm deletion, chromosome 4, (4p‐), a syndrome?
Authors: TAYLOR A. I. , CHALLACOMBE D. N. , HOWLETT R. M.
Published: September 2007

Two cases of new‐born infants with severe multiple congenital anomalies of the ‘mid‐line’ type and a 4p– deleted chromosome arc presented. Clinieal and other findings are compared with 8 published cases and with findings in Edwards' syndrome (18 trisomy), Patau's syndrome (13 trisomy) and cri du chat syndrome (5p–). The identification of the deleted chromosome by autoradiography and measurements is discussed.
Studies on the quantitative variation of human red cell peptidase A activity
Authors: SINHA K. P. , LEWIS W. H. P. , CORNEY G. , HARRIS HARRY
Published: September 2007

1. A new method for the assay of peptidase A activity in human red cells and leucocytes is described.

2. Wide variation in the level of red cell peptidase A activity between different individuals with the common electrophoretic phenotype Pep A1 has been demonstrated.

3. Family studies show highly significant parent‐child and sib‐sib correlations, but no significant parent‐parent correlation. The findings indicate that the differences in level of activity between individuals are to a large extent genetically determined.

4. Peptidase A activities in leucocytes show much less variation than in red cells. Only a small correlation, which was not statistically significant was found between red cell and leucocyte activity. In particular the levels of leucocyte peptidase A activity in individuals with very weak red cell activities were found to be very similar to those seen in individuals with strong red cell activity.

5. Weak peptidase A activity in red cells was not found to be associated with weak activity of other red cell peptidases.

6. No evidence for the differential occurrence of inhibitors or activators of peptidase A in red cells of individuals with different levels of activity was obtained in various experiments designed to test this possibility.

7. The electrophoretic patterns seen in individuals heterozygous for certain rare alleles (Pep A5 and Pep A6) which determine electrophoretic variants of peptidase A suggest that two different alleles (provisionally called Pep A1S and Pep A1W) determining different forms of the enzyme with the usual electrophoretic mobility (Pep Al), but with different activities in red cells occur. Individuals presumed to be heterozygous for Pep A5 (or Pep A6) and for Pep A1S show a symmetrical triple‐banded electrophoretic pattern, which suggests that the activity attributable to Pep A5 or Pep A6 is about the same as that attributable to Pep A.1S. Individuals presumed to be heterozygous for the rare allele Pep A5 or Pep A6 and for Pep A1W show in red cells an asymmetrical electrophoretic pattern with a marked deficiency of activity attributable to Pep A1W. In leucocytes, however, they show a symmetrical electrophoretic pattern indistinguishable from the patterns observed in individuals with the same rare allele in heterozygous combination with the common allele Pep AS.

8. It is suggested that the wide variation in activity seen in red cells of individuals with the common electrophoretic phenotype Pep A1, is at least in part attributable to alleles (Pep A1S and Pep A1W) occurring at the same locus as the alleles which determine previously described electrophoretic variants. However, it remains possible that allelic differences at other gene loci and producing their effects in different ways may also contribute to the genetically determined variation in activity.
The relative activities attributable to the three phosphoglucomutase loci (PGM1, PGM,2 PGM3) in human tissues
Authors: McALPINE PHYLLIS J. , HOPKINSON D. A. , HARRIS HARRY
Published: September 2007

1. The isozymes attributable to the three phosphoglucomutase loci, PGM1;PGM2 and PGM3, have been separated by agarose‐acrylamide gel electrophoresis and their relative activities have been measured in a range of human tissues.

2. In most tissues except red cells and fibroblasts, 85–95 % of the total PGM activity is determined by the PGM1 locus, 2–15 % is contributed by the PGM2 locus and 1–2 % is determined by the third locus PGM3.

3. In fibroblasts the PGM3 isozymes are relatively much more active and account for nearly 7 % of the total PGM activity.

4. In red cells approximately equal amounts of the PGM1 and PGM2 isozymes occur but no PGM3 isozymes are found.

5. The atypical PGM isozyme pattern observed in red cells is probably a reflexion of in vivo stability differences between the three forms of PGM. In other tissues the PGM isozyme patterns are probably consequent upon differences in rates of synthesis or differences in the specific activities of the gene products.
Genetics of dermatoglyphic patterns on palms
Authors: LOESCH DANUTA
Published: September 2007

Genetics of palmar dermatoglyphics have been investigated on the basis of a topological classification of dermal ridge patterns. A study was undertaken in a sample of 201 Polish families, comprising 187 pairs of parents and 666 children. Correlational analysis was performed using an IBM computer.

The first step was to establish frequencies of dermatoglyphic characters in the sample and anatomical correlations between various patterns on palms and finger tips. Then, correlation coefficients between relatives were calculated for eighteen dermatoglyphic characters. Further genetical analysis of the data was performed, including estimates of heritability index (h2), dominance‐recessivity index (dr)2 and search for the possible influence of sex‐linked genes. The results obtained show that the dermatoglyphic characters on palms vary considerably with respect to the proportions of genetical and environmental components; some of them, like hypothenar H loop, interdigital loop II and triradius t and some quantitative characters, like pattern intensity, have high heritability indices, while the others, like hypothenar distal loop H, radial hypothenar loop Hr or z triradii, are almost entirely determined by environmental influences.

It was further possible to examine the mode of inheritance of some of the pattern elements.

It can be assumed, on a basis of results so far obtained, that some dermatoglyphic characters like loops Ĥ and II and presence of triradius t may be determined mainly by single genes those for the loops being in homozygous recessive form.
Infant mortality from spina bifida, congenital hydrocephalus, monstrosity, and congenital diseases of the cardiovascular system in England and Wales
Authors: ROGERS S. CLIFFORD , MORRIS MICHAEL
Published: September 2007

The epidemiology of congenital abnormalities is reviewed and the data available in the Registrar General's Annual Reviews for England and Wales from 1848 to 1967 are analysed statistically.

The time and place of reported epidemics of spina bifida and anencephalus are tabulated.

It is concluded that the pattern of epidemics of dysraphism in time and place is inconsistent with a viral aetiology, and it is suggested that a proportion of embryos may be genetically susceptible to an antimetabolite present in a food under certain conditions of preservation, preparation or storage.
Comparison of some properties of red cell peptidase A from weak and strong activity phenotypes
Authors: SINHA K. P. , LEWIS W. H. P. , HARRIS HARRY
Published: September 2007

Partially purified preparations of red‐cell peptidase A obtained from individuals with very weak and relatively strong activities have been compared, in order to see whether qualitative differences between the enzymes attributable to different alleles could be identified. It was found that the enzymes obtained both from the weak‐ and strong‐activity phenotypes were very similar in their pH‐activity curves, Michaelis constants, and elution profiles from DEAE‐cellulose and CM‐Sephadex columns. In comparisons of thermostability no marked differences were observed, but there was a suggestion that the enzyme in the weak‐activity phenotype may be slightly more thermostable than the enzyme in the strong‐activity phenotype.
A haptoglobin mating frequency, segregation and ABO blood‐group interaction analysis for additional series of families
Authors: KIRK R. L.
Published: September 2007

Data for a further eight series, comprising a total of 2349 families with 5701 tested children, has been analysed for evidence of disturbances in mating frequency, number of offspring and segregation with respect to haptoglobin type. Five of the series were examined also for interaction effects between the ABO blood‐group and haptoglobin systems.

There was no significant departure from expectation for the frequency of matings in the haptoglobin system with the exception of the mating class Hp 1‐1 × 2‐1 in series no. 2. However, a comparison of the number of matings in the reciprocal mating classes 1‐1 × 2‐1 and 2‐1 × 1‐1 shows a significant excess of 2‐1 × 1‐1 matings. This excess is reflected even more in the number of children in the 2‐1 × 1‐1 mating class compared with the number in the reciprocal 1‐1 × 2‐1 class.

There is a significant distortion in the Hp types of offspring in the Hp2‐1 × 2‐2 mating class for all series combined as well as for series nos. 1 and 8 considered individually, the Hp2‐1 offspring being in excess. Series no. 7 shows a deviation also, but in the opposite direction to that in the other series.

A comparison of the Hp1 gene frequencies among children born to parents who are classified as either compatible or incompatible for the ABO blood‐group system shows that the Hp1 frequency is higher for the incompatible class in each of the five series for which information is available, the difference being significant in series nos. 2 and 3.