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中文摘要：
目的对一份血清学检测疑为CisAB型的标本进行基因分型,并测序确认以及进行家系分析。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,PCRSSP）;DNA测序采用ABO血型基因6、7外显子序列分析,单倍型6、7外显子及第6内含子序列分析,分析先证者及家系血型遗传规律。结果该家系7个标本发现5例血清学结果正反定型结果不符,正定型为AB型,反定型检出抗-B,先证者血清学符合CisAB表现,标本2、7为正常的A型。ABO基因分型的结果分成2组,标本1和标本3基因分型结果显示为O1/B;标本4、5、6基因分型结果显示为A/B;ABO基因直接测序及单倍型测序结果显示：标本1为CisAB01/O02;标本2、7为A102/O02;标本3为CisAB01/A101;标本4为CisAB01/A102;标本5为CisAB01/A102;标本6为CisAB01/A101。结论采用DNA序列分析法可以对ABO血型血清学正反定型不符的标本进行验证,并能阐述ABO血型正反定型不符或弱表达现象的分子基础。
英文摘要：
Objective To analyze the genotype and the DNA sequencing of a family samples serologicaUy identified as CisAB. Methods Forward and reverse group methods were used to determine the blood serological type of these samples, and PCR-sequenee specific primer （PCR-SSP） method was used to genotype the samples. Exon 6 and 7 of the ABO genes were screened by PCR and directly sequencing. The haplotypes of exon 6,7 and intron 6 were also analyzed by cloning sequencing. Results Serologieally,5 samples in this family were ineonformity between forward and reverse group methods. The forward group test showed that the samples were AB, while the reverse group test showed that the samples had the anti-B. PCR-SSP assay of sample 1 and 3 showed the samples were O1/B, and the sample 4,5 and 6 showed the samples were A/B. The samples 1 - 7 of ABO genetic locus sequencing showed CisAB01/02, A102/O2, CisAB01/A101, CisAB01/A102, Cis- AB01/A102,CisAB01/A101 and A102/O2,respectively. Conclusion DNA sequencing analysis is able to identify the serological phenotype samples that forward and reverse group methods were incongruent.
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