Analysis of beta-globin gene variants in Liuzhou area of Guangxi.
10.3760/cma.j.issn.1003-9406.2020.04.004
- VernacularTitle:广西柳州地区β珠蛋白基因的变异分析
- Author:
Lizhu CHEN
1
;
Shiqiang LUO
;
Ning TANG
;
Qiuhua WANG
;
Zehui XU
;
Liuqun QIN
;
Jingren WANG
;
Qingyan ZHONG
;
Jiaolian YA
;
Xiaoli LIU
;
Ren CAI
;
Jun HUANG
Author Information
1. Department of Medical Genetics, Liuzhou Maternal and Child Health Care Hospital, Liuzhou, Guangxi 545001, China. lzcairen@126.com.
- Publication Type:Journal Article
- MeSH:
China;
Female;
Genetic Counseling;
Genetic Variation;
Genotype;
Humans;
Mutation;
Pregnancy;
Prenatal Diagnosis;
alpha-Globins;
genetics;
beta-Globins;
genetics;
beta-Thalassemia;
diagnosis;
genetics
- From:
Chinese Journal of Medical Genetics
2020;37(4):378-383
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To determine the composition and distribution of beta-thalassemia-associated genotypes in Liuzhou area of Guangxi, China.
METHODS:From January to December 2017, 13 847 individuals who came for premarital examination, maternity examination or health check were recruited with informed consent. The subjects were analyzed by reverse dot blotting (RDB) for 17 common beta-thalassemia-associated variants among the Chinese population. Individuals with inconsistent results by blood test, electrophoresis, and RDB were subjected to Sanger sequencing to detect rare variants of the beta globin gene.
RESULTS:In total 2098 individuals were found to harbor beta-thalassemia-associated variants, which included 2075 heterozygotes (98.90%), 12 compound heterozygotes (0.57%) and 11 homozygotes (0.52%). CD41-42 (48.43%) and CD17 (31.45%) were the most common variants. Three hundred and thirty eight-individuals were found to also carry heterozygous variants of the alpha globin gene, with the most common types being --SEA/aa, -a3.7/aa, aCSa/aa, -a4.2/aa. Through Sanger sequencing, rare genotypes such as beta-32/betaN, betaCD41-42/betaIVS-II-5 and betaCD30/betaN were detected.
CONCLUSION:Liuzhou area has a high incidence of beta-thalassemia, but with a complex variant spectrum and clinical phenotypes different from other regions. Genetic counseling and prenatal diagnosis for the carrier population is crucial for the reduction of the related birth defects. Our result may provide valuable information for the prevention and control of beta-thalassemia in this area.
