
Study of urinary homogentisic acid and a determinantion of group HLA were carried out for 36 members of a family spread over three generations with three cases of ochronotic rheumatism in the second generation. Alkaptonuria was discovered in seven other subjects, six of them members of the third generation: urinary elimination was poor, less than 0.60 g/24 hours. There is a certain degree of consanguinity in the family studied here and these findings do not therefore rule out a recessive autosomal transmission of the alkaptonuria. They do however lead to the consideration that alkaptonuria may sometimes be found in heterozygotic subjects. A genetic relationship between HLA complex and alkaptonuria can only be claimed with difficulty from this familial study, but the high frequency of B 27 antigen (29 out of 36 members carring it) leaves room for the hypothesis that the B 27 gene, or more precisely a gene associated with the B 27 gene, plays a part in the development of ochronotic rheumatism.
Adult, Male, Heterozygote, Genotype, Genes, Recessive, Middle Aged, Alkaptonuria, Pedigree, HLA Antigens, Histocompatibility Antigens, Rheumatic Diseases, Humans, Female, Ochronosis
Adult, Male, Heterozygote, Genotype, Genes, Recessive, Middle Aged, Alkaptonuria, Pedigree, HLA Antigens, Histocompatibility Antigens, Rheumatic Diseases, Humans, Female, Ochronosis
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