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[HLA-B27 antigen and alkaptonuria].

Authors: A, Gaucher; P, Netter; G, Fuare; C, Raffoux; B, Chanson; J, Baumgartner; J, Psurel; +1 Authors

[HLA-B27 antigen and alkaptonuria].

Abstract

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.

Keywords

Adult, Male, Heterozygote, Genotype, Genes, Recessive, Middle Aged, Alkaptonuria, Pedigree, HLA Antigens, Histocompatibility Antigens, Rheumatic Diseases, Humans, Female, Ochronosis

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Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
3
Average
Average
Average
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