摘要
目的研究无偿献血者中昆明地区ABO亚型的分子机制。方法对26名无偿献血者正反定型不符的标本ABO基因第6、7外显子及侧翼内含子进行测序分析。结果 26例标本中共检测到2个O等位基因(O01、O02)、4个A等位基因(A101、A102、A105、A201)、9个B等位基因(B101、B(A)02、B305、Bel03、Bx02、Bw03、Bw11、Bw17、Bw19)以及1个新的B等位基因。该新等位基因基因第6外显子上检测到255C>T,为同义突变。结论本研究揭示了昆明地区献血者ABO血型亚型的分子遗传学背景。ABO基因第6外显子255C>T突变未见报道。
Objective To clarify the molecular mechanism and the genetic background of ABO subtypes in Kun- ming. Methods The genotypes of 26 samples with serologic ABO blood group discrepancies from Kunming blood center were analyzed by polymerase chain reaction seqtience-based typing（PCR-SBT）for sequencing exon 6, exon 7 and flanking introns of the ABO gene. Results Two O alleles（ 001,002）. four A alleles（Al01,Al02,A105,A201 ）, nine B alleles （B101, B（A）02, B305, Be103, Bx02, Bw03, Bwl 1, Bw17, Bw19）and a novel B allele were identified. And a novel allele with 255C 〉 T synonymous mutation was found in one case with B allele. Conclusion This study reveals the genetic background of ABO subtypes in Kunming and identifies a novel ABO allele.
出处
《中国输血杂志》
CAS
CSCD
北大核心
2012年第3期219-223,共5页
Chinese Journal of Blood Transfusion
关键词
ABO血型亚型
分子遗传学
Yunnan Kunming area
ABO subtypes
Molecular genetics
