[一名B(A)04血型表型个体及其家庭成员的分子分析]
[Molecular analysis of a B(A)04 phenotype individual and his family members].
作者信息
Zou Jie, Chen Zehui, Shen Gang
机构信息
Wuhan Blood Center, Wuhan, Hubei 430000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):251-254. doi: 10.3760/cma.j.issn.1003-9406.2017.02.023.
OBJECTIVE
To investigate the serological and genetic characteristics of an individual with B(A) phenotype of the ABO subtype and his family members.
METHODS
Serological assaying was carried out to characterize the erythrocyte phenotype of the discrepant samples. Exons 6 and 7 of the ABO gene were amplified with PCR and subjected to direct sequencing. Exon 7 of the ABO gene was also subjected to single strand sequencing.
RESULTS
The serological results of two samples from the family were prelimilarily typed as AwB and genotyped as B(A)04/O1 by sequence-specific primer PCR (PCR-SSP). Direct and single strand sequencing confirmed that the three samples all carried a B(A)04 allele and had a nt640A>G mutation in exon 7 of the ABO gene.
CONCLUSION
The nt640A>G mutation of the B allele has resulted in an amino acid substitution (Met214Val), which probably underlies the B(A)04 subtype. Blood samples with serological typing difficulty may be resolved by pedigree analysis using molecular methods such as PCR-SSP and DNA sequencing.
目的
研究1例ABO亚型B（A）表型个体及其家庭成员的血清学和遗传学特征。
方法
采用血清学方法对不符合常规的样本进行红细胞表型鉴定。应用聚合酶链反应（PCR）扩增ABO基因第6和第7外显子并直接测序，对ABO基因第7外显子进行单链测序。
结果
该家系2份样本血清学初定为AwB，序列特异性引物PCR（PCR-SSP）基因分型为B（A）04/O1。直接测序和单链测序均证实3份样本均携带B（A）04等位基因，ABO基因第7外显子存在nt640A>G突变。
结论
B等位基因nt640A>G突变导致氨基酸替换（Met214Val），可能是B（A）04亚型的分子基础。对于血清学分型困难的血样，可采用PCR-SSP及DNA测序等分子方法进行家系分析来解决。
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