1例AB_w表型的血清学和基因型检测

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

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。

Objective To identify the phenotype and genotype of a clinical sample with ABO blood grouping discrep- ancies. Methods The sample with ABO grouping discrepancies from hospital was detected with serologic and genetic meth- od. 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 conduc- ted by sequence-based testing（SBT） and cloning sequencing. Results Serologic identification：ABw Phenotype; PCR-SSP detection ： AB geuotype ; SBT detection ： A101/B101 heterozygote except nt1055 G/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.