Biomedical subjects
Publications and source records attributed to C Raffoux.
The association of ankylosing spondylarthritis with the B locus and more specifically with the B 27 antigen, is the closet known for any illness. The absence of linkage with the DRw antigens studied during this project, in 50 patients, can give rise to the hypothesis that spondylarthritis is associated with determinants situated on the B lymphocytes, linked to the HLA-B locus.
HLA antigens (27 HLA alleles of the A and B loci) were determined in 20 subjects of the same family, covering three generations; 6 of them were suffering from hereditary hemorrhagic telangiectasia. The haplotype HLA A2, Bw17 was found in all the sufferers. The same haplotype was not found in clinically health members except two of the generation III, but a visceral angiomatosis without clinical evidence cannot be excluded. An association of hereditary hemorrhagic telangiectasia with the haplotype HLA A2, Bw17 can be suspected in this family.
Thirty-nine members of one family, covering three generations, were HLA-typed. Twenty-five suffered from primary diffuse articular chondrocalcinosis, and all had the same dominantly transmitted autosomally controlled disease. This was characterized by acute articular attacks, which always started before the age of 35, and radiologically by typical cartilaginous and fibrocartilaginous deposits associated with para-articular calcifications. The lesions were both peripherally and axially generalized. None of the 28 HLA antigens tested seemed related to the disease, nor did the disease segregate with an HLA haplotype.
Thirty members of Family C, which included cases of alkaptonuria and ochronosis, were investigated by means of HLA typing and homogentistic acid determination. The antigen HLA B27 was found in one of the two members of the first generation, in all eight members of the second generation, and in 15 of the 21 members of the third generation. Eight of 10 subjects suffering from alkaptonuria, with or without ochronotic arthropathy or spondylosis, had B27. The gene for B27 is not the gene determining homogentisic acid oxydase synthesis but this study suggests that it may be associated or linked to it.
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.
The authors attempt to study the presence of subgroups of the phenotype A on lymphocytes and platelets with the help of liquid phase electrophoresis. The results show that anti-A of B serum reduces the electrophoretic mobility of red cells, platelets and lymphocytes of group A but leaves unchanged the mobility of group O or B cells. The same variations are observed in red cell lymphocytes and platelets. The authors suppose that the distribution of antigenic sites is identical in these elements.
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