目的 对一份血清学检测为CisAB型的标本进行基因分型,并测序确认.方法 血清学方法采用试管正反定型法；基因分型方法为序列特异性引物聚合酶链反应(PCR-sequence specific primer,PCR-SSP); DNA测序采用双脱氧法.结果 血清学检测结果为:正定型为AB型,反定型检出抗B,抗H+++,自身不凝.PCR-SSP的结果是CisAB01型,家系调查符合CisAB型遗传规律.ABO基因测序结果:第6外显子出现c.261缺失G,297为AA纯合子；第7外显子检出c.467C＞T、c.803G＞C突变,同时发现1个新的杂合突变c.724G＞T.结论 该标本血清学表型为CisAB型,测序结果基因型为ABO*CisAB01与ABO* O01杂合,经提交GenBank确认ABO基因第7外显子c.724G＞T为新突变,序列号为JF304777.%Objective To verify the DNA sequence of a sample serologically identified as CisAB.Methods Forward and reverse group methods were used to determine the blood serological type of that the sample,and PCR-sequence specific primer(PCR-SSP) method was used for genotyping the sample.Results Serologically,the forward group test showed that the sample was AB,while the reverse group test showed that the sample had the anti-B and anti-H + + +.The auto antibodies were negative.PCR-SSP assay showed the sample was CisAB01.ABO genetic locus sequencing showed c.261delG in exon 6,c.297 was homozygous AA.Mutations c.467C＞T and c.803G＞C were found in exon 7.A novel heterozygous mutation,c.724G＞T,was detected.Conclusion The serological phenotype of the specimen was CisAB.The genotype was ABO* CisAB01 and ABO* O01.A novel mutation c.724G＞T in exon 7 was identified (GenBank accession no.JF304777).
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