Cano Pedro, Testi Manuela, Andreani Marco, Khoriaty Evelyne, Bou Monsef Jad, Galluccio Tiziana, Troiano Maria, Fernandez-Vina Marcelo, Inati Adlette
MD Anderson Cancer Center, Houston, TX, USA.
Tissue Antigens. 2012 Oct;80(4):341-55. doi: 10.1111/j.1399-0039.2012.01936.x.
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 = {A26:01:01 - B35:01:01:01- C04:01:01:01- DRB116:01:01 - DRB502:02 - DQB105:02:01} and L2 = {A02:02 - B41:01- C17:01:01:01 -DRB111:04:01 - DRB302:02:01:01- DQB103:01:01:01}. 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 {A26:01:01- B35:01:01:01 - C04:01:01:01 - DRB116:01:01 - DRB502:02 - DQB105:02:01- DPB103:01:01} and {A33:01:01 - B14:02:01 - C08:02:01 - DRB101:02:01- DQB105:01:01:01 - DPB1*04:01:01:01}.
对来自88个家庭的426名黎巴嫩受试者进行了人类白细胞抗原(HLA)分型,共鉴定出347种单倍型。对A、B、C、DRB1、DRB3/4/5、DQB1和DPB1基因座进行了高分辨率分型。本研究表明,克劳德·香农于1948年最初提出的信息论,为研究像HLA这样的遗传系统的群体遗传学提供了一个很有前景的理论基础。尽管黎巴嫩人携带在其他人群中发现的HLA等位基因,但这些等位基因组合成单倍型的方式却相当独特。并与主要种族群体进行了比较。在黎巴嫩人群中大量存在的两种单倍型在任何全球人群中都未被发现:L1 = {A26:01:01 - B35:01:01:01- C04:01:01:01- DRB116:01:01 - DRB502:02 - DQB105:02:01} 和L2 = {A02:02 - B41:01- C17:01:01:01 -DRB111:04:01 - DRB302:02:01:01- DQB1 &