摘要:

SummaryThe results are reported of a survey of the mode of inheritance of muscular dystrophy, as determined from a series of 102 cases, of which 84 were examined personally. It is believed that this series approaches complete ascertainment of all cases at present recognized in the two counties of Northumberland and Durham. Available sibs and parents of affected individuals were examined whenever possible. It is agreed that rare ocular and distal forms of muscular dystrophy may be distinguished, but evidence is presented for suggesting that the commonly occurring cases can be classified into three types which are separate entities, both clinically and genetically. These maybe referred to as the Duchenne, facioscapulohumeral and limb‐girdle forms.A study of the mode of inheritance of the Duchenne type, in thirty‐four families containing fifty‐six cases, has indicated that the gene responsible for this disease is transmitted as a sexlinked recessive character with a high mutation rate. An estimation of the mutation rate in the present series gave a result of 4.3 × 10‐5. It is believed that the occasional occurrence of this form of the disease in females is not entirely incompatible with the suggested mode of inheritance; furthermore, the classification of such cases within this group is essential in view of their clinical similarity to the affected boys.In four families of the facioscapulohumeral type, containing twenty‐two cases, an autosomal dominant mode of inheritance was clearly indicated, although there was a possibility of sex limitation in one family and of incomplete manifestation in another.Eighteen families of the limb‐girdle form were examined and yielded twenty‐one cases. Except for one family, in which an autosomal dominant gene may have transmitted the disease, the pattern of inheritance was compatible with an autosomal recessive mechanism.The information available concerning one case of ocular myopathy and two of distal myopathy was insufficient to establish the mode of inheritance.Detailed blood grouping of blood samples was carried out in affected individuals, and in their sibs and parents, in nine families of the Duchenne type, and three of the facioscapulohumeral. No linkage between the gene for any type of myopathy and that for any blood group was discovered.Colour vision was tested in all families of the Duchenne type. Red‐green colour blindness was discovered in one family only (D6), but the information was insufficient to decide whether the gene responsible for this defect was closely linked to that responsible for the mu

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01274.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01275.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01276.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

摘要:

SummaryTritanopia was studied in forty‐seven affected individuals. Of these twenty‐two are propositi and twenty‐five relatives of propositi.The various tests used for the diagnosis of tritanopia are described and their efficiency is discussed.The familial incidence suggests that the bulk of congenital tritanopia is due to one or several autosomal dominant genes, with somewhat imperfect manifestation.On a single‐gene hypothesis, the incidence of the gene in England is estimated at about 1 in

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01277.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

摘要:

SummaryQuantitative data are presented on the cystine, lysine and arginine excretion in patients with cystine stone formation and in their relatives in twenty‐five families.It is suggested that two distinct abnormal phenotypes can be differentiated. Phenotype 1 is characterized by a greatly increased excretion of cystine, lysine, arginine and ornithine. Because of the high cystine concentration in the urine cystine stone formation is fairly frequent. Phenotype 2 is characterized by a moderately increased cystine and lysine excretion, whilst the arginine and ornithine excretion is normal or only slightly raised. In this phenotype stone formation occurs only very rarely.The families fall into two groups with regard to the occurrence of phenotype 2. In one group of families phenotype 2 is not found. In these families the segregation of phenotype 1 is consistent with the hypothesis that it represents the homozygote for a rare recessive gene. This type has been called ‘recessive cystinuria’. In the other group of families phenotype 2 is frequently found. Most of the propositi are of phenotype 1. The distribution of the two abnormal phenotypes in such families is consistent with the hypothesis that phenotype 1 represents the homozygote, and phenotype 2 the heterozygote, of a rare abnormal gene. Two families have propositi of phenotype 2 who, in this instance, happen to have formed stones. These families contain no individuals of phenotype 1. Phenotype 2 again segregates in a manner which suggests that it represents the heterozygote of an abnormal gene. In all families in which phenotype 2 is found the condition has been called ‘incompletely recessive cyst

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01278.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY

摘要:

Book reviewed in this article:The Distribution of the Human Blood Groups. By A. E. Motrant.The Genetics ofParamecium aurelia. By G. H. Beale.Über die Dummheit. By H. Geyer

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1955.tb01279.x

出版商:Blackwell Publishing Ltd    

年代:1955

数据来源: WILEY