CAJ | 학술논문

目的分析广西地区缺失型α地中海贫血(地贫)检出情况及基因分布特征,为基因诊断与遗传咨询提供理论依据.方法采用跨越缺U PCR检测中国人群3种常见缺失型α地贫基因(-SEA、-α37、-α4.2)突变情况,对于常规地贫检测基大型与临床表型不相符的标本,采用多重连接探针扩增及α或β珠蛋白基大测序技术检测基因突变情况.分析广西地区缺失型α地贫的基因分布特征.结果 51 191名疑诊地贫者中,共检出缺失型α地贫19 853例,占39.9％,其中中国人群常见缺失型(--SEA、-α3 7、-α4.2)19 780例,泰国型缺失61例,三联体(香港型)(αααHK)9例,21.9 kb缺失1例及809 bp缺失2例.结论广西地区缺失型α地贫所占比例高,类型复杂多样,对于基因型与临床表型不符的人群,进一步基因诊断可能检出罕见类型的地贫基因型,避免漏诊误诊,更好的为临床遗传咨询和产前诊断提供依据.
목적 분석엄서지구결실형α지중해빈혈(지빈)검출정황급기인분포특정,위기인진단여유전자순제공이론의거.방법 채용과월결U PCR검측중국인군3충상견결실형α지빈기인(-SEA、-α37、-α4.2)돌변정황,대우상규지빈검측기대형여림상표형불상부적표본,채용다중련접탐침확증급α혹β주단백기대측서기술검측기인돌변정황.분석엄서지구결실형α지빈적기인분포특정.결과 51 191명의진지빈자중,공검출결실형α지빈19 853례,점39.9％,기중중국인군상견결실형(--SEA、-α3 7、-α4.2)19 780례,태국형결실61례,삼련체(향항형)(αααHK)9례,21.9 kb결실1례급809 bp결실2례.결론 엄서지구결실형α지빈소점비례고,류형복잡다양,대우기인형여림상표형불부적인군,진일보기인진단가능검출한견류형적지빈기인형,피면루진오진,경호적위림상유전자순화산전진단제공의거.
Objective To analyze the detection rate and gene distribution characteristic of deletional α-thalassemia in Guangxi area,and to provide theoretic basis for thalassemia gene diagnosis and genetic counseling.Methods The regular gene diagnosis of 3 types of α-thai (--SH.A、-α3.7、-α4.2) was performed by gap-PCR,multiple ligation probe and gene sequencing for globin a or β were used to detect those samples whose genotype and phenotype were not consistent.And the distribution characteristic of α-thalassemia gene in Guangxi area was then analyzed.Results Out of 51 191 suspected thalassemia patients,there were 19 853 cases of deletional a-thalassemia,accounted for 39.9％ in total positive rate,including 19 780 cases of regular types (--SEA,-α3.7,-α4.2),61 cases of Thailand-type deletion,9 cases of triplet type (Hong Kong) (αααHK),I case of 21.9 kb deletion type and 2 cases of 809 bp deletion type.Conclusion Types of deletional a-thalassemia were complex and accounted for large proportion in Guangxi area.Special gene diagnoses were needed for those couples whose genotype and phenotype were not consistent,in order to provide reliable basis for genetic counseling and prenatal diagnosis.