[一个具有B(A)血型家族的血清学和分子遗传学分析]
[Serological and molecular genetic analysis of a family with B(A) blood type].
作者信息
Zhang Wenjing, Hun Shouyong, Wang Yuxia, Zhuang Yunlong
机构信息
Institute of Hematology, Blood Center of Shandong Province, Jinan, Shandong 250014, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Feb 10;36(2):165-167. doi: 10.3760/cma.j.issn.1003-9406.2019.02.018.
OBJECTIVE
To analyze the blood type of a family with B(A) blood type.
METHODS
The serological blood type of the family was determined by routine tube method. Exons 6 and 7 of the ABO gene were amplified by PCR and subjected to Sanger sequencing.
RESULTS
Serological testing of the proband and her elder son showed a discrepancy which was initially identified as B(A) subtype. Her husband and second son were identified as blood type O. Sequencing of the proband and her elder son has identified an O allele and a 640A>G mutation compared with the B gene. Her husband and second son possessed the same genotype of O/O.
CONCLUSION
The 640A>G mutation of ABO gene probably underlies the B(A) subtype.
目的
分析一个具有B（A）血型的家族的血型情况。
方法
采用常规试管法测定该家族的血清学血型。通过聚合酶链反应（PCR）扩增ABO基因的第6和第7外显子，并进行桑格测序。
结果
先证者及其大儿子的血清学检测显示存在差异，最初被鉴定为B（A）亚型。她的丈夫和二儿子被鉴定为O型血。对先证者及其大儿子进行测序，与B基因相比，发现了一个O等位基因和一个640A>G突变。她的丈夫和二儿子具有相同的O/O基因型。
结论
ABO基因的640A>G突变可能是B（A）亚型的基础。
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