贵州江口土家族β-地中海贫血筛查及基因分析

马骄; 李毅; 谢渊; 齐晓岚; 张小蕾; 任锡麟; 单可人

doi:10.11847/zgggws2005-21-09-26

贵州江口土家族β-地中海贫血筛查及基因分析

Screening and gene analysis of β-thalassemia in Tujia people in Jiangkou county of Guizhou

摘要

摘要:
目的分析贵州省江口县土家族人群β-地中海贫血(β-thalassemia)的发病状况、基因突变类型及特点.
方法随机选取贵州省江口县太平乡土家族居民485名, 抽取静脉血, 采用血红蛋白电泳分析法、一分钟碱变性法初筛β-地中海贫血阳性参考指标, 同时应用全自动血细胞分析仪进行红细胞计数(RBC)等7项血液学指标分析; 用常规酚-氯仿抽提法提取筛检阳性者DNA, 经PCR/反向斑点杂交(PCR/RDB)技术确定基因突变类型.
结果江口县土家族人群中, 共检出β-地中海贫血杂合子携带者13例, 检出率为2.68%.基因分析显示, 该人群β-地中海贫血基因突变类型主要为CD_41-42(TCTT)移码突变9例, 占69.2%, CD₁₇(A^→T)无义突变3例, 占23.1%和βE(Codon26)1例, 占7.7%.
结论贵州省江口土家族β-地中海贫血具有自身特点, 检出率较高, 可能与当地土家族通婚区域半径小有关, 应深入研究该地区β-地中海贫血患病特征, 指导当地积极预防该病, 提高少数民族人口素质.

Abstract:
Objective To study genet ic background of minorit ies and the distribution feature of gene mutations of β-thalassemia in Guizhou Jiangkou Tujia people.
Methods To sample from venous blood and to determine the HbFand HbA2 by the AM-electrophoresis to r iddle the heterozygotes of β-thalassemia, then the blood of heterozygotes were analyzed by the automatic blood cell analyzer.DNA was extracted from white blood cells withe the rountine method, then amplified and analysised by PCRand rev erse dot blot(RDB)hybridization.
Results There were 13 heterozygotes finding out from 485 ob jects, the incidence of the β-thalassemia was 2.68%, the types of majority mutation in this area were CD_41-42(TCTT)(9 cases 69.2%)、CD^{17 >} (A-T)(3 cases 23.1%)and β^E (1 case, 7.7%).
Conclusion The situation of Guizhou Tujia minority -thalassemia and its epidemilogy and genotypes haditsown character.These resear ches were significant to direct the local people smarriage, prenatal diagnosis, peoples quality improvement.

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