Analysis of Gene Mutation Types of Thalassemia in Yulin Childbearing-age Population of Guangxi China.
10.19746/j.cnki.issn.1009-2137.2020.06.035
- Author:
Dong-Ming LI
1
;
Ji-Hui LI
2
;
De-Min CHEN
1
;
Sheng HE
3
Author Information
1. Department of Clinical Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region，Nanning 530003, Guangxi Zhuang Autonomous Region, China.
2. Department of Clinical Laboratory, Yulin Child Health Hospital of Guangxi Zhuang Autonomous Region, Yulin 537000, Guangxi Zhuang Autonomous Region, China.
3. Research Center for Guangxi Birth Defects Control and Prevention, Nanning 530012, Guangxi Zhuang Autonomous Region, China,E-mail: gxcsqxyjs_HES@163.com.
- Publication Type:Journal Article
- MeSH:
China;
Genotype;
Humans;
Mutation;
alpha-Thalassemia/genetics*;
beta-Thalassemia/genetics*
- From:
Journal of Experimental Hematology
2020;28(6):2011-2016
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the genotype distribution of thalassemia in the population of childbearing age in Yulin area.
METHODS:The polymerase reaction (PCR) combined with agargel eletrophoresis and reserve dot bolt hybridization was used to detected the α- and β-thalassemia gene in 31 769 cases of suspected thalassemia population at childbearing-age.
RESULTS:A total of 22 254 cases were identified as thalassemia gene detetion or mutation in 31 769 cases with a detecting rate of 70.05%, and the detecting rate of α-thalassemia, β-thalassemia and α-combining β-thalassemia were 45.86% (14 569/31 769), 19.45% (6 178/31 769) and 4.74% (1 507/31 769) respectively. 28 kinds of α-thalassemia gene mutations were detected, the common mutations were as follows: --
CONCLUSION:The detection rate of thalassemia gene is high in Yulin caildbearing-age population, and there is diversity in mutation spectrums of thalassemia. The most common genotypes are --
