[Ael血型亚组的分子遗传结构研究]
[Study on molecular genetic structure of Ael blood subgroup].
作者信息
Yu Qiong, Wu Guo-guang, Liang Yan-lian, Deng Zhi-hui, Su Yu-qing, Wang Da-ming
机构信息
Shenzhen Blood Centre, Shenzhen Institute of Transfusion Medicine, Shenzhen, Guangdong, 518035 P.R.China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Apr;23(2):173-6.
OBJECTIVE
To study the ABO allele molecular characteristics of Ael blood subgroup.
METHODS
Five individuals of diagnosed as Ael blood subgroup were subjected to PCR amplify ABO alleles using four pairs of sequence-specific primers. Exon 6 and exon 7 at ABO locus of all samples were sequenced. An individual with AelB phenotype was chosen for further analysis of transcript structure of ABO gene.
RESULTS
Sequence analysis indicated one Ael phenotype sample with reported Ael01 allele, one Ael phenotype sample with an Ael05 allele, and two AelB and one Ael individuals did not contain referred A allele, but contain O01 or O02 allele with 261G deletion.
CONCLUSION
Molecular bases for the Ael have highly polymorphism. The mechanism responsible for the express weak A antigen of O allele with 261G deletion awaits to be elucidated.
目的
研究Ael血型亚组的ABO等位基因分子特征。
方法
选取5例诊断为Ael血型亚组的个体，使用4对序列特异性引物对ABO等位基因进行PCR扩增。对所有样本ABO基因座的第6外显子和第7外显子进行测序。选取1例AelB表型个体进一步分析ABO基因的转录结构。
结果
序列分析表明，1例Ael表型样本具有已报道的AelO1等位基因，1例Ael表型样本具有AelO5等位基因，2例AelB和1例Ael个体不含有参考A等位基因，而是含有缺失261G的O01或O02等位基因。
结论
Ael血型的分子基础具有高度多态性。缺失261G的O等位基因表达弱A抗原的机制有待阐明。
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