一例ABO血型A亚型个体的ABO基因序列分析与家系调查  

Genetic analysis of a case with A subtype of the ABO blood type

作　　者：刘衍春[1] 陈妍[1] 马玲[1] 史丽莉[1] 郑凌[1] 孙俊[1] 

机构地区：[1]江苏省血液中心,南京210042

出　　处：《中华医学遗传学杂志》2016年第2期244-246,共3页Chinese Journal of Medical Genetics

摘　　要：目的分析1例A亚型献血者的ABO血型血清学特性及相关的血型基因。方法用试管凝集法检测样本的ABO血型表型；用尿二苷酸N-乙酰半乳糖胺转移实验确定血型糖基转移酶的活性；用血凝抑制实验检测血型分泌型物质；ABO基因的第6-7外显子序列通过PCR扩增后直接测序分析，并对扩增产物进行克隆测序。结果该例表型为A亚型的先证者为非分泌型，血浆中无α-1、3M乙酰半乳糖基转移酶活性，DNA测序结果显示在第6外显子为nt．261del／G、297A／A，第7外显子为nt．467C／T、806T／C和1009A／G杂合，克隆测序显示一个等位基因为A205，另一个为001等位基因并有nt．806T〉C，该先证者的基因型为A205／Onew（806T〉C）。后者经比对为新的突变，新序列被提交至GenBank（序列号为KP341759）。家系调查结果显示其父亲基因型为Onew（806T〉C）／002，母亲基因型为A101／A205。先证者的新等位基因来自其父亲。结论该标本A抗原性减弱的原因为A205亚型等位基因引起，并存在一个新的O等位基因。Objective To analyze the serological features and related blood group genes of a donor with A subtype of the ABO blood type. Methods The ABO blood group of the sample was determined, in addition with the activity of blood group glycosyltransferase and blood group secretory substances. Sanger sequencing was adopted to analyze the genotype of the blood group. Results The proband was identified as A subtype （non-secretory type）, with no detectable activities of a-1, 3-N-acetylgalactosyltransferase. DNA sequencing has identified a number of mutations including nt. 261del/G and 297A/A of exon 6, and nt. 467C/T, 806T/C and 1009A/G of exon 7. Clone sequencing has confirmed that the nt. 806T〉C exists at one allele and was a novel mutation. The proband genotype was A205/Onew （806T〉C）. The nt. 806T〉C of the exon 7 was confirmed to be a novel mutation, which was given a GenBank accession number KP341759. Family study showed that the genotype of the proband＇s father was Onew （806T〉C）/O02, and that of his mother was A101/A205. The novel mutation of the proband has derived from his father. Conclusion The reduced A antigenicity of the sample was due to the A205 subtype allele and the presence of a novel O allele.

关 键 词：ABO血型 突变 等位基因 α-1 3-N-乙酰半乳糖基转移酶 

分 类 号：R440[医药卫生—诊断学]