云南5例花偠傣地中海贫血的家系调查  

Epidemiological study on thalassemia of 5 family surveys of Dai in Yunnan

作　　者：姚莉琴[1] 马子程 邹团标[1] 冯曦云[1] 刘锦桃[1] 全星[1] 

机构地区：[1]云南省妇幼保健院 [2]新平县妇幼保健院

出　　处：《现代预防医学》2013年第13期2547-2549,2555,共4页Modern Preventive Medicine

摘　　要：目的了解云南省新平县傣族地中海贫血先证者的家系调查的情况及遗传规律。方法对先证者进行家系调查,用特康血细胞分析仪进行血细胞分析,pH8.6缓冲液醋酸纤维薄膜做电泳分析,采用反向点杂交技术诊断β地贫基因突变,采用缺口聚合酶链反应技术检测α地贫缺失突变。结果β-地贫先证者在家系调查中,在父或母均发现异常。结论家系分析HbE为常染色体遗传,每代均有HbE,其儿女都会出现异常血红蛋白改变,说明遗传率较高,应重视预防,这对优生优育、提高人口素质具有重要意义。OBJECTIVE To investigate the situation and inheritance of family surveys of Dai in Xinping of Yunnan. METHODS Investigated family survey of the probands, and they were verified by blood cell automatic analysis, hemoglobin elec- trophoresis, genotyping of βthalassemia mutations andαthalassemia deletion were conducted using reverse dot-blot （ RDB） assay and gap-PCR, respectively. RESULTS There were abnormalities in parents in the investigation on probands of β tha-lassemia. CONCLUSION HbE is the autosomal inheritance by the pedigree analysis, there is HbE in each generation, and the children have the changes of the abnormal hemoglobin, it shows that the rate of heritability is high, and focus on the prevention is important to prenatal, postnatal care and improve population quality.

关 键 词：地中海贫血 先证者 家系调查 花偠傣 云南 

分 类 号：R556[医药卫生—血液循环系统疾病]