1例B_X亚型的分子机制研究

Molecular Genetic Analysis for a Bx Subgroup

目的探讨Bx亚型的分子机制。方法采用标准方法分析Bx亚型的血清学特性,并使用PCR产物直接测序或克隆后测序ABO基因7个外显子和外显子与内含子交界区。结果确认1例Bx表型,DNA分析显示该Bx个体的ABO基因为杂合001/B基因:905A>G导致B糖基转移酶中氨基酸D302G改变。结论在中国汉族人群中检测到Bx02等位基因。

Objective Bxis a rare ABO blood subtype and its molecular mechanism has not been explained clearly. This study reports one novel Bxallele in a blood donor individual. Methods With standard methods to analyse its serologic characters. DNA sequences of all seven exons and exon-intron boundaries of ABO gene were analyzed using genomic DNA by polymerase chain reaction and direct DNA sequencing or sequencing after gene cloning. Results The Bxphenotypes were diagnosed in the individual. DNA analysis revealed that the ABO gene of the individual was heterozygous of 001/B allele. A novel mutation 905A〉G was identified, which resulted in the amino acid changes D302G of B glycosyltransferases. Conclusion Bx02 allele is detected in Chinese population.