EXTENDED MAJOR HISTOCOMPATIBILITY COMPLEX HAPLOTYPES IN PATIENTS WITH GLUTEN-SENSITIVE ENTEROPATHY
EXTENDED MAJOR HISTOCOMPATIBILITY COMPLEX HAPLOTYPES IN PATIENTS WITH GLUTEN-SENSITIVE ENTEROPATHY
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DOI：
10.1172/jci112791
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发表时间：
1987-01-01
影响因子：
15.9
通讯作者：
YUNIS, EJ
中科院分区：
文献类型：
--
作者：
ALPER, CA;FLEISCHNICK, E;YUNIS, EJ
我们研究了随机确定的麸质敏感性肠病白人患者及其家族的主要组织相容性复合体标志物。扩展的单倍型，定义为特定的HLA-B，DR，BF，C2，C4 A和C4 B等位基因组合的单倍型，发生频率比预期的更频繁，在患者染色体上，从研究家庭的正常染色体上，从正常家庭的染色体上进行比较。超过一半的患者染色体几乎完全由两种扩展的单倍型[HLA-B8，DR 3，SC 01]和[HLA-B44，DR 7，CF 31]组成，其与非扩展的HLA-DR 7一起解释了先前观察到的该疾病的HLA标志物：HLA-B8，DR 3和DR 7。非扩展单倍型或其他扩展单倍型的HLA-DR 3或DR 7没有增加。HLA-DR 3和DR 7的纯合子和杂合子的分布与谷蛋白敏感性肠病的主要组织相容性复合体连锁易感基因的隐性遗传一致。另一方面，通过比值比分析，从DR 3和DR 7纯合子的总和与DR 3/DR 7杂合子相比，杂合子增加，纯合子减少，表明存在修饰现象。
We have studied major histocompatibility complex markers in randomly ascertained Caucasian patients with gluten-sensitive enteropathy and their families. The frequencies of extended haplotypes, defined as haplotypes of specific HLA-B, DR, BF, C2, C4A, and C4B allelic combinations, occurring more frequently than expected, were compared on patient chromosomes, on normal chromosomes from the study families, and on chromosomes from normal families. Over half of patient chromosomes consisted almost entirely of two extended haplotypes [HLA-B8, DR3, SC01] and [HLA-B44, DR7, CF31] which, with nonextended HLA-DR7, accounted for the previously observed HLA markers of this disease: HLA-B8, DR3, and DR7. There was no increase in HLA-DR3 on nonextended haplotypes or in other extended haplotypes with HLA-DR3 or DR7. The distribution of homozygotes and heterozygotes for HLA-DR3 and DR7 was consistent with recessive inheritance of the major histocompatibility complex-linked susceptibility gene for gluten-sensitive enteropathy. On the other hand, by odds ratio analysis and from the sum of DR3 and DR7 homozygotes compared with DR3/DR7 heterozygotes, there was an incrase in heterozygotes and a decrease in homozygotes suggesting the presence of modifying phenomena.