论文部分内容阅读
目的探讨南宁市六县六城区农村户籍育龄人群地中海贫血(简称地贫)基因突变类型及构成比。方法对2013年11月-2015年3月地贫筛查双方阳性的孕妇夫妇2 330对进行地贫基因检测。结果检出地贫携带者3 280例,阳性检出率为70.39%,其中单纯α地贫携带2 145例,单纯β地贫携带890例,αβ复合地贫245例。α地贫中以-SEA/αα所占比例最高(56.13%),其次为-α3.7/αα(15.62%),再次为-α4.2/αα(7.83%)和αCSα/αα(7.60%);β地贫中以βCD41-42所占比例最高(43.71%),其次为βCD17(33.71%),再次为β-28(6.29%)和βEM(5.39%)。结论对地贫高发区域的地贫基因突变类型和基因构成进行分析,有利于为制定人群预防计划和有效实施产前诊断提供依据。
Objective To investigate the types and constitutional ratios of thalassemia (thalassemia) gene mutation in rural reproductive-age population in Liucheng District, Nanning City. Methods A total of 2 330 pairs of pregnant women and two couples with positive thalassemia screening from November 2013 to March 2015 were tested for thalassemia gene. Results A total of 3 280 cases of thalassemia carriers were detected. The positive rate was 70.39%. Among them, 2 145 cases were simple thalassemia, 890 cases were simple thalassemia, and 245 cases were αβ thalassemia. The proportion of -SEA / αα in the α-thalassemia was the highest (56.13%), followed by -α3.7 / αα (15.62%), then -α4.2 / αα (7.83%) and αCSα / αα (7.60% ), βCD41-42 accounted for the highest proportion (43.71%) in β thalassemia, followed by βCD17 (33.71%), β-28 (6.29%) and βEM (5.39%) again. Conclusions The analysis of the types and genetic constitution of thalassemia gene mutations in areas with high incidence of thalassemia is beneficial to the establishment of population prevention programs and effective implementation of prenatal diagnosis.