DNA序列分析法对新的B（A）型等位基因的检测分析

目的：对一ABO血型血清学定型违反一般血型遗传规律的家系进行研究,探讨B（A）血型的鉴定方法和新的B（A）型等位基因检测方法。方法：用血清学血型方法、PCR-SSP法和ABO基因第6及第7外显子直接测序的方法对B（A）血型和B（A）型等位基因进行检测。结果：该家系中血型血清学定型为AB型的成员DNA序列分析测定基因型为B（A）/O型,而PCR-SSP法检测AB型成员的基因型为O/O型。结论：应采用DNA序列分析法才能准确测定汉族人群中B（A）血型,而用PCR-SSP法检测可能引起误诊。

DNA Sequencing for Identification of A Novel B(A) Allele in Han Nationality

Objective:To investigate a family line in which the serological blood groups of the members did not accord with the inheritance rules and discuss the methods for identification of B(A) phenotypes and novel B(A) allele in Han nationality.Methods:ABO blood groups were identified by serological tests.B(A) alleles were determined by PCR-SSP and direct DNA sequencing at exons 6 and 7 of ABO gene.Results:The family was blood-grouped serologically as AB phenotypes,while PCR-SSP assay showed as O/O phenotypes,but direct DNA sequencing at exons 6 and 7 of ABO gene indicated that they were B(A)/O phenotypes.Conclusion:DNA sequencing is able to identify B(A) phenotypes correctly,while PCR-SSP may result in a false result for the identification of blood group.