摘要:

SUMMARYMethods are given for testing the agreement of theory and observation as to the frequency of sex‐linked characters in the two sexes in populations. They are applied to data by Sanger and her colleagues, and by Dronamraj

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1963.tb00203.x

出版商:Blackwell Publishing Ltd    

年代:1963

数据来源: WILEY

摘要:

SUMMARYFrequency data on 577 males and 608 females from Orissa, India are presented which suggest that the ability to read Plates 14 and 15 of Ishihara (1959) test is determined by a group ofX‐linked recessive genes. Five out of the six pedigrees investigated are compatible with the hypothesis. The frequency among males is 34.3% and among females 6‐4%. The frequency of colour blindness (in the usual sense) is 4–6 % among males and 0.16 % among females.I am grateful to Prof. J. B. S. Haldane, F.R.S. for helpful suggestions and guidance. Messrs M. R. Shastry and P. Srihari Rao assisted in the

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1963.tb00204.x

出版商:Blackwell Publishing Ltd    

年代:1963

数据来源: WILEY

摘要:

SUMMARYAn 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

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1963.tb00205.x

出版商:Blackwell Publishing Ltd    

年代:1963

数据来源: WILEY

摘要:

SUMMARYPedigrees, blood types for ABO, Rhesus, MN, Kell, Duffy and Lewis, and erythrocyte galactose‐1‐phosphate uridyl transferase values are presented for eighteen families ascertained because of a galactosaemic child. There is no evidence for linkage between galactosaemia and any of these blood group loci.The authors would like to express their gratitude to all those who have helped in this investigation, particularly Dr Phillip Sturgeon, in whose laboratory the blood typing was performed, Mrs Grace Perry, Mrs Karen Richardson, Mrs Dorothy McQuiston, Dr William Bergren and Miss Maria Re

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1963.tb00206.x

出版商:Blackwell Publishing Ltd    

年代:1963

数据来源: WILEY

摘要:

SUMMARYThe 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 H

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1963.tb00207.x

出版商:Blackwell Publishing Ltd    

年代:1963

数据来源: WILEY

摘要:

SUMMARYFrom 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 notthey 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 Coun

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1963.tb00208.x

出版商:Blackwell Publishing Ltd    

年代:1963

数据来源: WILEY

摘要:

SUMMARYIn the course of an investigation of karyotypes in patients with retinoblastoma, one was found in whom all cells showed a deletion in the longer arm of one of the large acrocentric chromosomes. Five other patients had normal karyotypes.The writers wish to thank Dr White Franklin for drawing attention to case no. 1 and arranging for the biopsy, Dr Joy D. A. Delhanty for the fibroblast culture in case no. 1, Dr R. G. Chitham for the culture in case no. 6, Dr Sylvia D. Lawler for suggestions and Miss Dorothy Newlyn for family history investigations.The work was carried out with the aid of a grant RG‐6984 from the United States Public Health Servic

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1963.tb00209.x

出版商:Blackwell Publishing Ltd    

年代:1963

数据来源: WILEY

摘要:

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

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1963.tb00210.x

出版商:Blackwell Publishing Ltd    

年代:1963

数据来源: WILEY

摘要:

SUMMARYThe significance of correlation coefficients for measuring likenesses between trisomies, their parents and sibs is discussed. Expected formulae and values are given which are based on three different assumptions about non‐disjunction. The most marked distinction is found between correlations for trisomic child and aberrant parent, in whom non‐disjunction has occurred, and that for trisomic child and parent with normal gametes. Observations on measurements of maximaloldpalmar angle are discussed.I would like to express my thanks to Mrs Sheila Maynard Smith who has kindly calculated independently all the formulae used in this paper. I am particularly indebted to her for drawing my attention to the proportions of the different types of chromosome pairs in aberrant gametes from heterozygotes when there is 50 % recombination. The frequencies of the types AA, Aa, aA and aa are in the ratio 1:2:2:1 and not in the apparently more likely ratio 1:1:1:1. This peculiarity had been pointed out by Prof. J. B. S. Haldane in the discussion of the formal consequences of parthenogene

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1963.tb00211.x

出版商:Blackwell Publishing Ltd    

年代:1963

数据来源: WILEY

摘要:

SUMMARYA mentally retarded child with congenital malformations is described in whom a high proportion of cells contained a small ring chromosome derived from a no. 18 (Denver classification). The variability in the morphological appearance of the ring chromosome is illustrated and its stability is discussed in relation to other instances of ring chromosomes in both man and other organisms.The writers wish to thank Dr Margaret D. Baber and Dr Ursula James for their co‐operation during this investigation, Mr A. J. Lee for preparing the figures and Miss Penelope M. Carr, Miss Linda Z. Gorman and Miss Barbara J. Warland for technical assistance.Research grants from the British Empire Cancer Campaign (N.H.K.), from St George's Hospital (M.K.L.) and from the United States Public Health Service (RG‐6984) (J.R.E. and R.M.) made this study possi

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1963.tb00212.x

出版商:Blackwell Publishing Ltd    

年代:1963

数据来源: WILEY