Bw11亚型家系表现n ABO等位基因竞争现象的研究n

来源 :中华医学遗传学杂志 | 被引量 : 0次 | 上传用户:wangbadanwang
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目的:分析携带n ABO*BW.11等位基因的家系成员ABO血清学和分子生物学特征。n 方法:应用血清学方法检测先证者及其家系成员共9人的ABO血型表型。采用PCR方法扩增n ABO基因第6、7外显子并对扩增产物直接测序,同时克隆测序先证者及其父亲的标本。n 结果:血清学检测初步判断先证者及其弟弟为AB亚型,先证者的父亲及其两女儿为B亚型。克隆测序发现先证者n ABO等位基因第7外显子在n B101的基础上第695位碱基发生T>C变异,表明为n ABO*BW.11等位基因。先证者的父亲、弟弟及其两个女儿均携带该变异等位基因。n A基因与n BW.11以及n BW.11与n O基因同时遗传时竞争现象存在明显差异。n 结论:ABO基因c.695T>C变异可能会导致Bw11亚型存在等位基因竞争现象。分子生物学方法结合血清学方法有助于精准鉴定ABO疑难血型。n “,”Objective:To investigate the serological and molecular characteristics of a pedigree carrying an allele for ABO*BW.11 blood subgroup.Methods:The ABO blood type of 9 pedigree members were determined by serological methods. Exons 6 and 7 of the n ABO gene were amplified by PCR and directly sequenced. The patient and her father were also subjected to clone sequencing analysis.n Results:Serological tests demonstrated that the proband and her younger brother had an ABw subtype, whilst her father and two daughters had Bw subtype. Clone sequencing found that the exon 7 of the n ABO gene of the proband had a T>C substitution at position 695, which was identified as a BW.11 allele compared with the reference sequence B. 01. This BW.11 allele was also identified in the proband’s father, brother and two daughters. Due to allelic competition, the A/BW.11 and BW.11/O alleles demonstrated significantly different phenotypes.n Conclusion:The c. 695T>C substitution of then ABO gene may lead to allelic competition in the Bw11 subtype. Combined molecular and serological methods is helpful for precise blood grouping.n
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