摘要:

SUMMARYThe estimation of the recombination fraction between pairs of loci on the X‐chromosome is discussed, with special reference to the bias from defined forms of ascertainment. Tables are presented which give lods corrected for the common forms of ascertainment.The interpretation of lods is discussed, and the concept of equivalent observations introduced.A simple counting system is described for use in close linkag

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1971.tb00237.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

SUMMARY1. Human alcohol dehydrogenase (ADH) has been investigated by spectrophotometry assay and by starch‐gel electrophoresis.2. Assays were carried out at pH 8‐8 and pH 11‐0 on liver samples obtainedpost mortemfrom 129 adults over the age of 20, 37 premature infants and infants less than one year old and 56 foetuses. Sixteen cases of the previously described atypical pH ratio phenotype were identified among the 166 adults and infants tested. No examples of the atypical pH ratio phenotype were encountered among the foetuses. On average the foetal liver ADH activity was less than in adults and it appeared to increase with increasing gestational age.3. Electrophoretic analyses of ADH in liver samples obtained from 117 foetuses of various gestational ages, 62 premature infants and infants less than a year old and a group of more than 200 adults over the age of 20, indicate that developmental changes occur during intrauterine life.4. The atypical pH ratio phenotype liver ADH isozyme pattern was found to be electro‐phoretically different from that of the usual pH ratio phenotype.5. The ADH isozyme pattern in lung tissue was the same in adults, infants and foetuses. The overall activity was low and mainly concentrated in a single isozyme which was electrophoretic‐ally indistinguishable from the main ADH isozyme of adult liver. Usual and atypical pH ratio phenotypes were identified, both by assay and by starch‐gel electrophoresis, in foetal, infant and adult lung specimens.6. The ADH activity of kidney and intestine was too weak for assay with ethanol as substrate. In adults the isozyme patterns in kidney were similar to those found in adult liver. In foetal intestine and kidney, however, the ADH isozymes were quite different from those of adult liver and also foetal liver. Three distinct phenotypes, designated ADH31, ADH32‐1 and ADH32, were recognized in foetal kidney and intestine, occurring with frequencies of 0–42, 0–42, and 0–16 respectively in a survey of 117 specimens.7. The appearance of the ADH isozyme patterns in liver and in foetal kidney and intestine is consistent with the hypothesis that ADH has a dimeric sub unit structure.8. The findings suggest that at least three autosomal gene loci may be concerned in determining the structure of alcohol dehydrogenase in man.(a)LocusADH1primarily active in the liver in early foetal life, becoming less active during gestation and only weakly active during adult life.(b)LocusADH2(i) expressed in lung in early foetal life and remaining active in this tissue throughout life, (ii) active in liver after about the first trimester and gradually becoming more active so that in adults this locus is responsible for most of the liver ADH activity, (iii) also active in adult kidney, (iv) the atypical pH ratio phenotype is probably determined by a variant allele at theADH2locus.(c) LocusADH3‐ active during foetal and early post‐natal life in intestine and kidney. The variant phenotypes ADH31, ADH32‐1 and ADH32 are thought to represent the genotypesADH13ADH31,ADH32ADH32andADE31ADH32respectively, whereADH31andADH32are alleles at theADH3locus. The gene‐frequency estimate ofADH3

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1971.tb00238.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

SUMMARYA quinacrine fluorescent technique has been used to identify the presence and frequency ofYchromosomes at different stages of spermatogenesisin&n XYYmale. Forty‐five per cent of primary spermatocytes contained twoYchromosomes associated as aYYbivalent, and the patient exhibited an increased frequency ofYYbearing spermatozoa as compared to three control male

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1971.tb00239.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

SUMMARYGenetics 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 triradiustand some quantitative characters, like pattern intensity, have high heritability indices, while the others, like hypothenar distal loop H, radial hypothenar loop Hror 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 triradiustmay be determined mainly by single genes those for the loops being in homozygous recessive

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1971.tb00240.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1971.tb00241.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

SUMMARYThe 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.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1971.tb00242.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

SUMMARY1. The distribution of seven different peptidases thought to be determined by separate gene loci has been examined in a variety of human tissues. Although most of them are widely distributed, their relative activities vary from tissue to tissue.2. The enzymes have been characterized in terms of their electrophoretie mobilities, their patterns of specificity with thirty‐five different substrates, and their molecular sizes as estimated by gel nitration.3. One of the peptidases (peptidase S) which is not found in red cells but is present in most other tissues has not been previously described. It appears to hydrolyse a somewhat wider range of substrates than the other peptidases, and to have a larger molecular size (c. 245,000

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1971.tb00243.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

SUMMARYPartially 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‐act

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1971.tb00244.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

SUMMARYData 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 theHp1gene frequencies among children born to parents who are classified as either compatible or incompatible for the ABO blood‐group system shows that theHp1frequency is higher for the incompatible class in each of the five series for which information is available, the difference

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1971.tb00245.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Book reviewed in this article:The Rise and Fall of T. D. Lysenko.By Z. A. MedvedevThe Distribution of the Blood Groups in the United Kingdom.By AdaC. KopecThe de Lange Syndrome.By J. M. Berg, B. D. MCCreary, M. A. C. Ridlerand G. F. SmithStructures génétiques despopulations.By AlbertJacqua

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1971.tb00246.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY