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[HLA haplotypes in families of children with congenital adrenal hyperplasia].

作者信息

Turowska-Heydel D, Pietrzyk J J, Turowski G

机构信息

I Klinika Chorób Dzieci Polsko-Amerykańskiego Instytutu Pediatrii Collegium Medicum Uniwersytetu Jagiellońskiego w Krakowie.

出版信息

Pediatr Pol. 1995 Feb;70(2):115-20.

PMID:7603793
Abstract

The haplotypes of class I HLA system were determined in a group of 32 children with congenital adrenal hyperplasia and classic form of 21-hydroxylase deficiency. The haplotype frequencies were analyzed and compared to those of the control population. Haplotypes containing the HLA-B-47 antigen were significantly more frequent among the families of patients than among the control population. Among the patients, haplotypes HLA A3-B47-Cw6 and HLA A3-B47-Cwx constituted 50% of all the observed haplotypes with the HLA-B47 antigen. It is stressed that the frequency of homozygotic systems for antigens determined by locus HLA-A (33.34%) and for antigens with locus HLA-B (22.23) were much higher in the affected children.

摘要

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