【摘要】 目的研究1名cis AB血型患者及其家系的血型血清学及基因型特征。方法采用试管正反定型法筛查该家系3代共10例标本的血型;对于正反定型结果不一致的标本以PCR-SSP法作基因分型;采用直接测序法作DNA序列分析。结果血型血清学检测发现10名家系成员中,正反定型不相符4例:2例表型为A2B3、2例为A2B;基因型分型分别为:cis AB01/O02、CisAB01/B101。DNA序列分析:cis AB01/O02第6外显子261缺失G,第7外显子297A>G、467C>T、646T>A、681A>A、771C>T、803G>C和829G>C;CisAB01/B101第6外显子297A>G,第7外显子467C>T、803G>C、526C>G、657C>T、703G>A、796C>A、930G>A。结论确定了1个遗传性cis AB血型家系;发现具有cis AB01等位基因的标本其血清学表型检测结果不一致,考虑由cis AB杂合的等位基因差别所致。更多还原

【Abstract】 Objective To study serologic and genetic features of a patient family with four CisAB members.Methods The blood groups of ten members in three generations of a patient family were screened.Forward and reverse mismatched blood grouping in the samples were further tested serologically and genetically by PCR-SSP and DNA sequencing.Results Four members showed forward and reverse mismatched blood grouping,with two A2B3 phenotypes and two A2 B.Two different genotypes were confirmed:CisAB01 / O02 in A2B3 and CisAB01 / B101 in A2 B.A sequencing analysis showed a deleted G(261) at the 6th exon,297 A > G,467 C > T,646 T > A,681 A > A,771 C > T,803 G > C and 829 G > C in the 7th exon of CisAB01 / O02.A 297 A > G occurred at the 6th exon,467 C > T,803 G > C,526 C > G,657 C > T,703 G > A,796 C > A,930 G > A at the 7th exon of CisAB01 / B101.Conclusion An inherited CisAB blood group family with 4 /10 CisAB members in three generations was verified.Two genotypes of CisAB were identified as CisAB01 / O02 and CisAB01 / B101.CisAB heterozygous alleles contributed to the differential phenotypes.更多还原