[一例ABO亚型Bx10/O01的分子机制]
[Molecular mechanism for a case with ABO subtype Bx10/O01].
作者信息
Yang Liang, Du Yong, Mei Chuanliang, Liang Wei
机构信息
Central Blood Station, Ningbo, Zhejiang 315010, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):431-434. doi: 10.3760/cma.j.issn.1003-9406.2017.03.027.
OBJECTIVE
To explore the molecular mechanism of a case with ABO subtype Bx10/O01.
METHODS
The serological phenotype of the proband was determined with a conventional method, and the ABO genotype was determined by sequence-specific primer polymerase chain reaction (PCR-SSP). Exons 6 and 7 of the ABO gene were amplified with PCR and sequenced. The samples were collected from both parents and analyzed.
RESULTS
The proband's erythrocytes were detected with B antigens, along with the presence of anti-B in serum and absence of B substance in saliva. The genotype B/O of the proband was identified by PCR-SSP. Direct sequencing of the proband revealed 261delG/G, 297A/G in exon 6 and 526C/G, 657C/T, 703A/G, 796C/A, 803C/G, 829G/T, 930A/G heterozygote in exon 7, which was assigned as Bx10/O01 genotype. The Bx10 allele of the proband was inherited from his mother.
CONCLUSION
The G to T mutation at position 829 of α -1,3-galactosyltransferase enzyme gene has resulted in the Bx10 phenotype.
目的
探讨1例ABO亚型Bx10/O01的分子机制。
方法
采用常规方法确定先证者的血清学表型，通过序列特异性引物聚合酶链反应（PCR-SSP）确定ABO基因型。采用PCR扩增ABO基因第6和第7外显子并进行测序。采集先证者父母的样本并进行分析。
结果
先证者红细胞检测到B抗原，血清中存在抗B抗体，唾液中无B物质。通过PCR-SSP鉴定先证者的基因型为B/O。先证者直接测序显示第6外显子有261delG/G、297A/G，第7外显子有526C/G、657C/T、703A/G、796C/A、803C/G、829G/T、930A/G杂合子，确定为先证者Bx10/O01基因型。先证者的Bx10等位基因遗传自其母亲。
结论
α-1,3-半乳糖基转移酶基因第829位的G→T突变导致了Bx10表型。
Zotero 插件