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患有肾上腺生殖器综合征的儿童及其父母的HLA单倍型

HLA haplotypes in children with adrenogenital syndrome and their parents.

作者信息

László A, Godó B, Kaiser G, Hajdu J, Fazekas C

出版信息

Acta Paediatr Acad Sci Hung. 1981;22(3):217-22.

PMID:7304161
Abstract

HLA-A and B antigen typing was carried out by the standard NIH lymphocytotoxicity test in children with adrenogenital syndrome (AGS) from 11 families, further in 3 healthy siblings and 20 obligatory gene carrier parents. Of the children 7 had the salt-losing form. The AGS homozygote group was examined for the geno- and haplotypes of the HLA antigen and the heterozygote group for HLA antigen genotypes. Two AGS-affected children of the same family proved to be HLA-identical, while in other families the haplotypes of the healthy siblings were different from those of the affected children. As compared with the data of 222 healthy blood donors, the antigens of the HLA-A and B loci in the homo- and heterozygote groups showed no significant difference.

摘要

采用标准的美国国立卫生研究院淋巴细胞毒性试验,对来自11个家庭的肾上腺生殖器综合征(AGS)患儿、另外3名健康同胞及20名必然的基因携带者父母进行了HLA - A和B抗原分型。患儿中7例为失盐型。对AGS纯合子组进行了HLA抗原的基因和单倍型检查,对杂合子组进行了HLA抗原基因型检查。同一家族中两名患AGS的儿童被证明HLA相同,而在其他家族中,健康同胞的单倍型与患病儿童的不同。与222名健康献血者的数据相比,纯合子组和杂合子组中HLA - A和B位点的抗原无显著差异。

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