中国汉族人群ABO血型系统基因分型研究与应用

目的 研究中国汉族人群ABO基因多态性，并将基因分型技术用于解决临床输注中血型血清学难题：方法 快速盐析法提取外周血中的DNA，采用聚合酶链反应—序列特异性引物(PCR—SSP)基因方法对ABO血型定型，并且在吸收放散试验、唾液血型物质凝集抑制等血清学试验基础上，用PCR—SSP法扩增疑难ABO血型的等位基因：结果 在中国汉族符合Hardy—Weeinberg平衡的随机群体(260人)中，检出O1、B、A101(A267c)和A102／103(A467r)四种等位基因，其基因频率分别为、0.5827,0．1．846、0.0096、0.2231：在疑难血型鉴定中6份血清学定为A2的标本中，只有2例基因分型确定为A201O1，其余均为A102／A103O1型，在一家系疑难血型鉴定中，兄弟三人均为类孟买型，ABO基因分型分别为A102B、A102B、A102O1.结论 ABO RCR—SSP基因分型是一种方便、快速、可靠的技术，与血型血清学相比有着显著优势：研究发现中国汉族人群A2等位基因构成与国际报道的基因构成存在差异。

Study on genotyping of ABO blood group and its application in Chinese Han population.

Objective To study ABO gene polymorphism of Chinese Han population and apply ABO genotyping technology to solve the serological problems of clinical transfusion. Methods After DNA was extracted from peripheral blood by rapid salt method, we employed the polymerase chain reaction with sequence -specific primers (PCR-SSP) based on ABO genotyping using 7 designed primers to amplify ABO gene and the allele of difficult blood type after the serologic tests including absorption-elution tests, saliva neutralizing or inhibitor substances tests and others were used. Results We had detected alleles in a population of 260 Chinese Han individual. The gene frequencies of these alleles were 01 0.5827, B 0.1846,A101 (A467C)0.0096, A102/103(A467T) 0.2231 respectively. Amoung six individuals suspected as A2 by serological tests two were proved to be A20101, the rest were A102/10301. Three children of a family were para-Bombay types with ABO types A102B, A102B and A102O1 respectively. Conclusion ABO genotyping technique, much better than serologic tests, is a simple, rapid and accurate method for determing the difficult cases of ABO genotyping. Furthermore, we found some allele structure are different to that reported before.