中国当代医药2018，Vol.25Issue(16)：124-126,3.
贵州地区82例地中海贫血产前筛查基因诊断结果分析
Analysis on the results of genetic diagnosis of 82 cases of thalassemia in prenatal screening in Guizhou
吴莎莎 1何志旭 1金皎 1黄璟 1袁军2
作者信息
- 1. 贵州医科大学附属医院儿科,贵州 贵阳 550004
- 2. 贵州省人民医院生化科,贵州 贵阳 550002
- 折叠
摘要
Abstract
Objective To understand the types of thalassemia gene mutations in the couples during pregnancy and their fetuses in Guizhou Region and to provide reference data for the genetic consultation of thalassemia in our province. Methods Data were collected on the patients who were given prenatal diagnosis of thalassemia in the Prenatal Diagnosis Center of the Affiliated Hospital of Guizhou Medical University and Guizhou People's Hospital from October 2012 to October 2014.Screening was performed by routine blood test and hemoglobin electrophoresis test,and the genotyping of thalassemia was performed by RDB and PCR.Results ①In the data of 82 patients,26 cases of α-thalassemia were detected,accounting for 31.7％.The most common deletion type-α thalassemia in the Chinese people(-SEA,α3.7,α4.2) was detected;56 cases of β-thalassemia were detected,accounting for 68.3％.The seven genetic types of mutations that were common in the Chinese people were detected,with the most common types of CD17 (A→T),CD41-42(-TCTT),and IVS-2-654(C→T).②There were 51 couples who both carried α-thalassemia or β-thalassemia according to the genetic diagnosis.Prenatal genetic diagnosis was carried out by collecting cord blood or amniotic fluid.There were 33 cases of fetuses with prenatal diagnosis of mild thalassaemia,10 cases of fetuses with negative thalassemia,and 8 cases of fetuses with moderate to severe thalassemia.Among them,there were 5 cases of fetuses with severe β-thalassemia according to the prenatal diagnosis.One case of fetus was bart's edema,and two cases of fetuses had hemoglobin H disease.All of them were given the measures to terminate the pregnancy.Conclusion There is a significant difference in the incidence rate of thalassemia.However,there are similar trends in the rates of gene mutation.Among them,the detection rate of β-thalassemia carriers is significantly higher than that of α-thalassemia carriers;through prenatal screening,the birth of the infants with severe and intermediate thalassaemia can be avoided.关键词
地中海贫血/基因型/遗传筛查/产前诊断Key words
Thalassemia/Genotype/Genetic screening/Prenatal diagnosis分类
医药卫生引用本文复制引用
吴莎莎,何志旭,金皎,黄璟,袁军..贵州地区82例地中海贫血产前筛查基因诊断结果分析[J].中国当代医药,2018,25(16):124-126,3.
