摘要
目的探讨百色市右江流域壮族人群β-地中海贫血的基因突变类型及频率。方法应用聚合酶链反应(PCR)和反向点杂交(RDB)技术,对596例壮族人群β-地中海贫血(β-地贫)基因携带者进行基因分型。结果 596例β-地贫携带者中,常见的基因突变位点为CD17 49.33%(294/596,其中纯合子14例,杂合子206例,双杂74例);CD41-42 34.06%(203/596,其中纯合子11例,杂合子130例,双杂62例);IVS-Ⅱ-654 8.39%(50/596,其中纯合子1例,杂合子29例,双杂20例);βE 8.05%(48/596,其中βE杂合子32例,双杂16例);CD71-72 4.36%(26/596,其中杂合子19例,双杂7例);-28 4.36%(26/596,其中杂合子16例,双杂10例);CD17/-29 0.17%(1/596)。结论本研究初步揭示了百色市右江流域壮族人群β-地中海贫血的基因突变类型及其频率,为进行遗传咨询、临床治疗和婚育指导提供了有价值的基础资料。
Objective To explore the types of genemutation and gene frequency in β-thalassemia of Zhuang nationality individuals of Youjiang drainage basin in Baise.Methods The types of genemutation and gene frequency in 596 patients with β-thalassemia of Zhuang nationality individuals were analyzed by polymerase chain reaction（PCR） and gene chips technology.Results Among 596 patients with β-thalassemia of Zhuang nationality individuals,the genem utation types and gene frequency were as follows：CD17 49.33%（294/596,among homozygous 14 cases,heterozygous 206 cases,both heterozygous 74 cases）;CD41-42 34.06%（203/596,among homozygous 11 cases,heterozygous 130 cases,both heterozygous 62 cases）;IVS-Ⅱ-654 8.39%（50/596,among homozygous 1 cases,heterozygous 29 cases,both heterozygous 20 cases）;βE 8.05%（48/596,among heterozygous 32 cases,both heterozygous 16 cases）;CD71-72 4.36%（26/596,among heterozygous 19 cases,both heterozygous 7n）;-28 4.36%（26/596,among heterozygous16 cases,both heterozygous 10 cases）;CD17/-29 0.17%（1/596）.Conclusion The study reveals the types of gene muta tion and gene frequency of β-thalassemia of Zhuang nationality individuals of Youjiang drainage basin in Baise,which providesa basis for hereditary consultation,clinical therapy and procreative guidance.
出处
《中国实验诊断学》
北大核心
2011年第10期1668-1670,共3页
Chinese Journal of Laboratory Diagnosis
基金
广西科学自然基金项目(桂科字0499010)
关键词
Β-地中海贫血
壮族
基因型
聚合酶链反应
反向点杂交
β-thalassemia
Mutation situs
Gene frequency
Gene chips
Polymerase chain reaction Zhuang Nationality
