葡萄牙马德拉岛的HLA - DQA1和HLA - DQB1等位基因多样性及其扩展单倍型
HLA-DQA1 and HLA-DQB1 allele diversity and its extended haplotypes in Madeira Island (Portugal).
作者信息
Spínola H, Lemos A, Couto A R, Parreira B, Soares M, Dutra I, Bruges-Armas J, Brehm A
机构信息
Human Genetics Laboratory, University of Madeira, Funchal, Portugal.
SEEBMO, Hospital Santo Espírito de Angra do Heroísmo, Azores, Portugal.
出版信息
Int J Immunogenet. 2017 Feb;44(1):27-31. doi: 10.1111/iji.12300. Epub 2016 Dec 29.
This study shows, for the first time, high-resolution allele frequencies of HLA-DQA1 loci in Madeira Island (Portugal) and allows us to better understand and refine present knowledge on DQB1 variation, with the identification of several alleles not previously reported in this population. Estimates on haplotype profile, involving HLA-A, HLA-B, HLA-DRB1, HLA-DQA1 and HLA-DQB1, are also reported.
本研究首次展示了葡萄牙马德拉岛HLA - DQA1基因座的高分辨率等位基因频率，使我们能够更好地理解和完善关于DQB1变异的现有知识，并鉴定出该人群中先前未报道的几个等位基因。此外，还报告了涉及HLA - A、HLA - B、HLA - DRB1、HLA - DQA1和HLA - DQB1的单倍型谱估计。
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