HLA population genetics: a Lebanese population.

Pedro Cano, Manuela Testi, Marco Andreani, Evelyne Khoriaty, Jad Bou Monsef, Tiziana Galluccio, Maria Troiano, Marcelo Fernandez-Vina, Adlette Inati
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引用次数: 6

Abstract

Human leukocyte antigen (HLA) typing was done in 426 Lebanese subjects of 88 families, in which 347 haplotypes were identified. The A, B, C, DRB1, DRB3/4/5, DQB1 and DPB1 loci were typed at high resolution. This study shows that information theory, as originally developed by Claude Shannon in 1948, provides a promising theoretical foundation to study the population genetics of a genetic system like HLA. Although Lebanese carry HLA alleles found in other populations, the association of these alleles into haplotypes is quite unique. Comparisons are made with the main ethnic groups. Two haplotypes well represented in the Lebanese population are not identified in any global population: L1 = {A*26:01:01 - B*35:01:01:01- C*04:01:01:01- DRB1*16:01:01 - DRB5*02:02 - DQB1*05:02:01} and L2 = {A*02:02 - B*41:01- C*17:01:01:01 -DRB1*11:04:01 - DRB3*02:02:01:01- DQB1*03:01:01:01}. By studying linkage disequilibrium in two blocks at a time, with the division of the blocks at different levels in consecutive cycles, conserved haplotypes in full linkage disequilibrium come to light, such as {A*26:01:01- B*35:01:01:01 - C*04:01:01:01 - DRB1*16:01:01 - DRB5*02:02 - DQB1*05:02:01- DPB1*03:01:01} and {A*33:01:01 - B*14:02:01 - C*08:02:01 - DRB1*01:02:01- DQB1*05:01:01:01 - DPB1*04:01:01:01}.

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HLA群体遗传学:黎巴嫩人群。
对黎巴嫩88个家族的426名受试者进行了人类白细胞抗原(HLA)分型,鉴定出347个单倍型。A、B、C、DRB1、DRB3/4/5、DQB1和DPB1位点高分辨率分型。这项研究表明,最初由Claude Shannon于1948年提出的信息论为研究HLA等遗传系统的群体遗传学提供了一个有希望的理论基础。尽管黎巴嫩人携带在其他人群中发现的HLA等位基因,但这些等位基因与单倍型的关联是相当独特的。与主要民族进行了比较。两种单倍型在黎巴嫩人口中有很好的代表性,但在全球任何人口中都没有发现:L1 = {A*26:01:01 - B*35:01:01:01- C*04:01:01 -DRB1* 16:01:01 - DRB5*02:02 - DQB1*05:02:01}和L2 = {A*02:02 - B*41:01- C*17:01:01 -DRB1*11:04:01 - DRB3*02:02:01 - DQB1*03:01:01}。通过对两个基因块的连锁不平衡进行研究,在连续的周期中对基因块进行不同程度的划分,发现了完全连锁不平衡的保守单倍型,如{a *26:01:01- B*35:01:01:01 - C*04:01:01 - DRB1*16:01:01 - DRB5*02:02 - DQB1*05:02:01- DPB1*03:01:01}和{a *33:01:01 - B*14:02:01 - C*08:02:01 - DRB1*01:02:01- DQB1*05:01:01 - DPB1*04:01:01}。
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Tissue antigens
Tissue antigens 医学-病理学
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