HLA高分辨分型模棱两可组合研究和问题解决的进展

人类白细胞抗原(HLA)是迄今所知人类最复杂的免疫遗传多态性系统,准确的HLA分型对于临床造血干细胞移植、HLA与疾病相关性等研究有着重要的意义。聚合酶链反应-直接测序分型法(PCR-SBT)因达到高分辨水平和能鉴定新等位基因而被广泛应用,但PCR-SBT法的一个大问题是该法在分型判断时存在较高比例的模棱两可组合的结果,对HLA分型数据的精确判断带来了很大程度的困扰。本文对HLA高分辨基因分型模棱两可组合存在的原因和问题解决方法的研究进展进行了综述,并对研究前景作了简单的展望。

Ambiguous Allele Combinations in the HLA High Resolution Genotyping -Review

Human lymphocyte antigen（HLA） is the most complicated human dominant polymorphic genetic system.Accurate HLA genotyping is clinically important for hematopoietic stem cell（HSC） transplantation,also important for research on many human diseases.Polymerase chain reaction-sequence based typing（PCR-SBT） provides the highest resolution level and defines new alleles,so it is widely used for HLA typing.One great disadvantage of PCR-SBT method is the fact that it cannot resolve sequences of heterozygous samples in diploid genomes,leading to ambiguous typing results which make much trouble to the accurate definition of HLA genotype.This article reviewed the occurring reasons and solution method of ambiguous allele combinations in the HLA high resolution genotyping as well as the research prospect in this field.