Mao Qin, Chongqing Health Center for Women and Children, China

Mao Qin

Chongqing Health Center for Women and Children, China

Presentation Title:

Epidemiological investigation and genetic analysis of thalassemia in childbearing-age populations in Yuzhong District, Chongqing, based on high-throughput sequencing technology

Abstract

Aim: 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%), Condon 41/42 (-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. 

Biography

Mao Qin is an attending physician at the Chongqing Maternal and Child Health Hospital. He holds a Master's degree specializing in Andrology, obtained from the Sino-Japanese Clinical Medical College at Beijing University of Chinese Medicine. He currently serves as a committee member of the Professional Committee on Andrology in Maternal and Child Health under the Chinese Sexology Association. His primary research focus lies in investigating the mechanisms by which pharmacological agents improve male spermatogenic function.