摘要:

SummaryPaper chromatography has revealed a proteinuria and generalized aminoaciduria in young mice homozygous for the mutationbrain herniaat a time prior to the development of severe polycystic disease. As the polycystic disease becomes established, the urine becomes more dilute than normal.The urine of very young mice of both mutant and normal genotypes has proved to be excellent material for the chromatographic analysis of amino acids.The author acknowledges with thanks many helpful discussions with Prof. L. C. Dunn during the course of this project.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1961.tb01491.x

出版商:Blackwell Publishing Ltd    

年代:1961

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1961.tb01492.x

出版商:Blackwell Publishing Ltd    

年代:1961

数据来源: WILEY

摘要:

SummaryA 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 A1blood 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,

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1961.tb01493.x

出版商:Blackwell Publishing Ltd    

年代:1961

数据来源: WILEY

摘要:

SummaryThe values of the coefficients of inbreeding for sex‐linked genes have been calculated for each one of the subtypes of first‐cousin once removed, and second‐cousin marriages.Data are presented on the incidence of the different subtypes of uncle‐niece, aunt‐nephew, first‐cousin, first‐cousin once removed, and second‐cousin marriages in a number of Brazilian populations. The genetic implications of the findings are inferred and discussed.An analysis is made of the mating system, widely known in ‘primitive’ societies, which favours cross‐cousin marriages and disapproves parallel cousin marriages.We are highly indebted to the ecclesiastical authorities who made their files available for analysis. Our thanks are also due to Dr R. Deraemaeker for allowing us to present his unpubl

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1961.tb01494.x

出版商:Blackwell Publishing Ltd    

年代:1961

数据来源: WILEY

摘要:

SummaryIn 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 Co

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1961.tb01495.x

出版商:Blackwell Publishing Ltd    

年代:1961

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1961.tb01496.x

出版商:Blackwell Publishing Ltd    

年代:1961

数据来源: WILEY

摘要:

SummaryA 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 investiga

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1961.tb01497.x

出版商:Blackwell Publishing Ltd    

年代:1961

数据来源: WILEY

摘要:

SummaryA 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 ne

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1961.tb01498.x

出版商:Blackwell Publishing Ltd    

年代:1961

数据来源: WILEY

摘要:

SummarySerum gamma globulin(Gm)groups were determined for 262 Japanese. The resulting allele frequency estimate forGmawas 0–885 and forGmb0–115. 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 theGmaandGmbfrequencies 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 inGmallele 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, M

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1961.tb01499.x

出版商:Blackwell Publishing Ltd    

年代:1961

数据来源: WILEY

摘要:

SummaryThe discussion presented here is intended to clarify some of the problems arising in an analysis of the possible effects of birth control on the human sex ratio. Formulas are presented indicating some of the ways in which the sex ratio can be modified as a result of the use of birth‐control methods. These formulas lead to different conclusions from those presented in the earlier literature on this subject. Further empirical research, along lines suggested by the considerations arising from the present discussion, is needed. The overall effect of birth control on the sex ratio will depend upon, among other things, the particular kinds of preferences for male offspring that influence the married couples in the population, the particular kinds of preferences for female offspring that influence the married couples in the population, the particular ways in which these preferences affect the parents' decisions as to whether or not to have another child (if they make such decisions), the relation between the parents' decisions and their probability,pt, of bearing a boy, the effectiveness with which these decisions are carried out, the relation between family size andpitthe distribution of thepiin the population, and the nature of thev

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1961.tb01500.x

出版商:Blackwell Publishing Ltd    

年代:1961

数据来源: WILEY