1例ABw表型的血清学和基因型检测

目的 鉴定对1例ABO疑难血型标本的表型和基因型.方法 1例ABO疑难血型标本用血清学方法做ABO表型检测,用PCR-SSP法做ABO基因鉴定,用直接测序法和克隆测序法对ABO基因的第6、7外显子做序列分析.结果 血清学定型:ABw表型;PCR-SSP法鉴定:AB型;直接测序:A101/B101等位基因杂合,但伴有nt1055的G/A突变;克隆测序:G1055A突变发生在B101等位基因上,该突变产生Bw07等位基因.结论 在中国人群中发现A101/Bw07基因型.

Identification of the phenotype and genotype of an AB_w sample in Chinese population

Objective To identify the phenotype and genotype of a clinical sample with ABO blood grouping discrepancies.Methods The sample with ABO grouping discrepancies from hospital was detected with serologic and genetic method.ABO phenotype was detected with serologic method.Polymerase chain reaction method with sequence-specific primers(PCR-SSP) was carried out to clarify the ABO genotype.The sequence analysis of exons 6 and 7 of ABO gene was conducted by sequence-based testing(SBT) and cloning sequencing.Results Serologic identification:ABw Phenotype;PCR-SSP detection:AB genotype;SBT detection:A101/ B101 heterozygote except nt1055G/A mutation;Cloning sequencing:G1055A mutation was found on B101allele.It is a new allele named Bw07.Conclusion A101/Bw07 genotype has been found in Chinese population.