双胎输血综合征患儿A_2血型2例及其家系基因调查

Identify A_2 blood group in Twin-to-twin transfusion syndrome newborns and pedigree surveys

目的:分析2例ABO亚型A2及其家系成员的血型基因。方法:同时应用血清学实验、序列特异性引物聚合酶链反应(PCR-SSP)方法检测患者及其家系成员ABO基因,并进行测序。结果:2例患者血清学结果均为A亚型,PCR-SSP分型结果为A205/O02,其母亲血清学结果为O型,PCR-SSP分型结果为O0 1/O0 2,其父亲血清学结果为A亚型,PCR-SSP分型结果为A205/A205,所有家庭成员的PCR-SSP结果与测序结果相符。结论:ABO血型亚型具有遗传基础,可以结合分子生物学方法、血清学方法和家系调查等方法进行最终确认。

Objective：To test the A_2 blood group in two cases of Twin-to-twin transfusion syndrome newborn and to research the ABO blood group of their family members.Method：The ABO blood group that the patients and their parents were detected by serological experiment,sequence-specific primer polymerase chain reaction（PCR-SSP）and sequencing of gene sequences.Result：The serological results of the patients specimen were typed as A subtype and genotyped as A_205/O02,the serological results of the mother specimen was typed as O and genotyped as O0 1/O0 2,the serological results of the father specimen was typed as A subtype and genotyped as A_205/O02,and the result of all the family members about sequencing of gene sequences are consistent with PCR-SSP methods.Conclusion：ABO subtype has a genetic basis and can be identified by molecular biological methods combined with serological methods and family surveys.