[匈牙利人群中 HLA 抗原与特发性血色素沉着症的相关性]

[Correlation of HLA antigens and idiopathic hemochromatosis in Hungary].

作者信息

Czink E, Gyódi E, Német K, Hollán Z

机构信息

Országos Haematológiai és Vértranszfúziós Intézet, Budapest.

出版信息

Orv Hetil. 1991 Feb 24;132(8):409-10, 413-5.

PMID:2003028

Abstract

The aim of our present work was to collect data on HLA distribution in patients with idiopathic haemochromatosis in Hungary. Ten unrelated patients with idiopathic haemochromatosis (6 men, 4 women) were studied. Idiopathic haemochromatosis was diagnosed on clinical, biochemical and histological grounds. HLA typing was performed in 10 probands and in all of their first degree relatives available (24) through 7 pedigree studies. HLA A3 was present in 6 of 10 probands [6/10 vs. 18.8% in the group of healthy blood donors (No 53) and 22.4% in Hungarian population (No 1910]. HLA B7 was present in 4 of 10 probands (40% vs. 11.3% and 14.6%). A3B7 antigen association has been found in 4 of 10 patients. A3B7 and A2B38 haplotypes were present twice in 4 of 7 genotyped probands. Pedigree studies revealed one nonaffected homozygote, 17 heterozygotes and 6 non carriers. Extended family and population studies are necessary to establish the gene frequency in Hungary and the probability of the involved haplotypes other than A3B7.

摘要

我们当前工作的目的是收集匈牙利特发性血色素沉着症患者的HLA分布数据。研究了10名无亲缘关系的特发性血色素沉着症患者（6名男性，4名女性）。特发性血色素沉着症通过临床、生化和组织学依据进行诊断。通过7个家系研究，对10名先证者及其所有可获得的一级亲属（共24人）进行了HLA分型。10名先证者中有6人存在HLA A3[10人中的6人，而健康献血者组中为18.8%（第53号），匈牙利人群中为22.4%（第1910号）]。10名先证者中有4人存在HLA B7（40%，而健康献血者组中为11.3%，匈牙利人群中为14.6%）。10名患者中有4人发现了A3B7抗原关联。在7名进行基因分型的先证者中，有4人两次出现A3B7和A2B38单倍型。家系研究发现1名未患病的纯合子、17名杂合子和6名非携带者。有必要进行扩展家系和人群研究，以确定匈牙利的基因频率以及除A3B7以外的相关单倍型的概率。