摘要
目的了解四川汉族人群中Rh血型系统中D变异体的分布特点和分子机制。方法采用血型血清学方法对102份四川汉族献血者,61份本实验室临床标本做C、c、E、e表型鉴定,并用间接抗球蛋白试验从非亲缘随机献血者中筛选弱表达的D变异体(包括弱D和部分D),用吸收放散试验检测Del型。同时采用序列特异性引物-聚合酶链反应方法对RHD等位基因进行分型,对Rh(D)变异体标本进行杂合性鉴定,并采用测序法对疑难标本进行测序分析。结果血清学试验检出D抗原变异型52例,经分子生物学方法检测分析,弱D15RHD(G282D)型4例,弱D12RHD(G277E)型1例,弱DRHD(L320L)1例(型别未定),弱DRHD(G263R)1例(型别未定),部分DDVItypeⅢ型2例,DELRHD(K409K)型41例,DELRHD(M1I)型1例,此外发现新等位基因RHD(A237D)1例(基因序列号:GU998825)。RHD杂合性检测结果显示1例弱D15和9例DELRHD(K409K)型标本为RHD+/RHD+纯合子,其他均为RHD+/RHD-杂合型。结论四川地区汉族人群Rh(D)变异体有丰富的类型和不同分子机制.
Objective To analyse the distribution and genetic background of D variants in Sichuan. Methods All samples were tested by serologic blood grouping tests for their phenotypes. D variants were identified from the non-related blood donors by indirect antiglobulin test （IAT）. D^el was determined by absorption and elution. The genotype of RHD was studied by using polymerase chain reaction with sequence-specific primers（PCR-SSP）, and all the samples with ambiguous results were sequenced. RHD zygosity was detected through PCR-SSP. Results Fifty-two samples were identified as D variants by serological tests. Following genotyping, there were 4 RHD（G282D）,1 RHD（G277E）,1 RHD（L320L）,1 RHD（G263R）, 2 DVI typeⅢ, 1 DELRHD（M1I）, and 41 cases of DELRHD（K409K）. A new allele RHD（A237D）was discovered in our experiments, with the GenBank sequence number of GU998825. RHD zygosity test results showed that there were 1 weak D15 and 9 DELRHD （K409K） for RHD＋/RHD＋ homozygous, and the others were RHD＋/RHD-heterozygous type. Conclusion D variants population in Sichuan province varies in types and in different genetic backgrounds.
出处
《中国输血杂志》
CAS
CSCD
北大核心
2010年第5期368-372,共5页
Chinese Journal of Blood Transfusion
