Prevalence and Genotypes Analysis of Thalassemia Among People of Reproductive Age in Yuzhong District of Chongqing Based on Next-Generation Sequencing.
10.19746/j.cnki.issn.1009-2137.2020.03.035
- Author:
Mao QIN
1
;
Hua-Yan GU
2
;
Hai-Yan ZHANG
3
;
Jun REN
1
;
Rong PENG
1
;
Xin ZHU
1
Author Information
1. Department of Women's Health, Chongqing Maternal and Child Health Hospital, Chongqing 401147, China.
2. Department of Women's Health, Chongqing Maternal and Child Health Hospital, Chongqing 401147, China,E-mail: 27890836@qq.com.
3. Department of Women's Health, Chongqing Maternal and Child Health Hospital, Chongqing 401147, China,E-mail: zhangdodo1975@126.com.
- Publication Type:Journal Article
- MeSH:
China;
Female;
Genotype;
High-Throughput Nucleotide Sequencing;
Humans;
Mutation;
Pregnancy;
Prevalence;
alpha-Thalassemia;
beta-Thalassemia
- From:
Journal of Experimental Hematology
2020;28(3):932-936
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the prevalence and gene distribution of thalassemia among people at reproductive age in yuzhong district, Chongqing.
METHODS:1000 pre -pregnancy examination couples in yuzhong district were investigated. Peripheral venous blood was extracted and next-generation sequencing was used to screen the thalassemia genes.
RESULTS:Among the 1000 pregnant couples, the thalassemia gene carrying rate was 7.45%, the carrying rate of α and β thalassemia genes were 4.60% and 2.10%, respectively. The most common α thalassemia genotypes in αα/-α3.7 (53.26%), αα/--SEA (23.91%), αα/-α4.2 (11.96%); and the most common genotypes in β thalassemia genotypes were mainly Codons17 (A＞T) (26.19%)、Condon41/42 (-TTCT) (26.19%)、IVS-II-654 (C＞T) (14.29%) At the same time, 3 cases of α and β complex thalassemia and 3 pairs of homotypic thalassemia genes were detected, more over, 12 cases of 5 new genes were found.
CONCLUSION:Yuzhong district of Chongqing is a high incidence area of thalassemia, and the diversity of gene mutation types is relatively rich. Screening for thalassemia before pregnancy is of great significance to improve the quality of population.
