侗族人群β地中海贫血的调查

谢渊; 齐晓岚; 齐燕飞; 李毅; 单可人

侗族人群β地中海贫血的调查

Research on β-thalassemia in Dong people in Guizhou

摘要

摘要:
目的了解贵州从江县侗族人群β地中海贫血的发病状况、基因突变类型及特点。
方法抽取受检者静脉血, 应用HbF和HbA₂定量测定对人群进行β-地中海贫血初筛, 同时应用全自动血细胞分析仪进行红细胞计数(RBC)、血红蛋白测定(Hb)、红细胞比容测定(HCT)、平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)、平均红细胞血红蛋白浓度(MCHC)、红细胞分布宽度(RDW)等7项血液学指标分析, 然后用常规酚-氯仿抽提法提取受检者DNA, 经PCR-反向点杂交法对β珠蛋白基因进行突变分析。
结果从江县侗族人群中, β地中海贫血的检出率为7.85%, 检出CD_41-42(TCTT)移码突变(9例, 23%)和CD₁₇(A→t)无义突变(30例, 77%)2种基因突变类型。
结论该地区侗族人群中β地中海贫血患病率较高, β珠蛋白基因变异情况独特, 可能与族内婚配、家族发病聚集性和通婚地理半径狭小有关。

Abstract:
Objective To investigate the incidence of-thalassemia and the gene variations of beta-globin in Guizhou Congjiang Dong people.
Methods To sample from venous blood and determine the HbF and HbA₂ by the AM-electrophoresis to riddle the heterogotes of β-thalassemia, then the blood of heterogotes were analyzed by the auto matic blood cell analyzer, DNA extracted from white blood cells with the rountine method and analysed by PCR. and RDB (reverse dot blot) hybridization.
Results Among the sampls, the incidence of-thalassemia carriers is 7.85%, The types of gene mutation in this area were CD_41-42 (-TCTT) (9 cases, 23%) and CD₁₇(A→T) (30 cases.77%).
Conclusion The incidence of-thalassemia was very high in the area and the beta-globin gene variations were different to that of the reported Chinese population, which might be related to the intra-ethnic marriage, the conglomerate family mobility and the narrow marriage radius.

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