[HLA-B27 antigen and alkaptonuria].
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.
D000328:Adult; D000474:Alkaptonuria / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006680:HLA Antigens; D006579:Heterozygote; D006649:Histocompatibility Antigens; D006801:Humans; D008297:Male; D008875:Middle Aged; D009794:Ochronosis / Q000235:genetics; D010375:Pedigree; D012216:Rheumatic Diseases / Q000235:genetics*
D006680:HLA Antigens; D006649:Histocompatibility Antigens
Antigène HLA-B27 et alcaptonurie