重庆市人类精子库488例捐精志愿者地中海贫血筛查情况及基因型分析  

Thalassemia screening and genotype analysis in 488 sperm donors in Chongqing Human Sperm Bank

作　　者：盛维琼 黄静 张天枫 张益 黄华 王红 贾国庆 康成江 Sheng Weiqiong;Huang Jing;Zhang Tianfeng;Zhang Yi;Huang Hua;Wang Hong;Jia Guoqing;Kang Chengjiang(Human Sperm Bank,Chongqing Research Institute for Population and Family Planning Science and Technology)

机构地区：[1]重庆市人口和计划生育科学技术研究院附属医院人类精子库,重庆400020

出　　处：《重庆医科大学学报》2025年第4期511-515,共5页Journal of Chongqing Medical University

基　　金：重庆市医学科研(卫生健康委员会和科技局联合)资助项目(编号:2022msxm063)。

摘　　要：目的:通过对重庆市人类精子库捐精志愿者地中海贫血筛查情况和基因突变类型分析,了解重庆地区捐精志愿者地中海贫血的携带情况,为重庆地区捐精志愿者地中海贫血筛查方案提供参考依据。方法:选择2021年12月至2024年8月重庆市人类精子库488例捐精志愿者(进入检疫期所有合格捐精志愿者)的血液样本,采用全血细胞分析法检测红细胞平均体积(mean corpuscularvolume,MCV)、平均血红蛋白含量(mean corpuscu larhemoglobin,MCH),采用聚合酶链式反应(polymerase chain reaction,PCR)/琼脂糖凝胶电泳法检测缺失型α-地贫基因突变,采用PCR和DNA反向点杂交法检测3种常见非缺失型α-地贫基因突变和17种常见β-地贫基因突变,并对检测结果进行分析。结果:488例捐精志愿者,年龄(25.64±4.95)岁,共检出地中海贫血携带者15例(3.07%)且均为汉族,低于重庆地区地中海贫血人群携带率9.24%。地中海贫血携带者15例中,包括α基因缺失型13例,分别为-α3.7基因型11例(73.33%)、-α4.2基因型1例(6.67%)以及-SEA基因型1例(6.67%);α基因非缺失型2例,均为WSM杂合突变。地中海贫血携带者中MCV、MCH 2项指标均异常仅有1例(筛查阳性率6.67%)。结论:重庆市人类精子库捐精志愿者地中海贫血筛查结果具有区域性(籍贯以川渝地区为主)和人群分布差异性(健康育龄男性),地中海贫血携带率较低,因地中海贫血对供精出生子代具有重要的影响,建议人类精子库在捐精志愿者中开展地中海贫血基因筛查。Objective:To investigate the carriage of the thalassemia gene in sperm donors in Chongqing,China by analyzing the thalassemia screening and gene mutation types of sperm donors in Chongqing Human Sperm Bank(CHSB),and to provide a reference for thalassemia screening in sperm donors in Chongqing.Methods:Blood samples were collected from 488 sperm donors in CHSB(donors with all tests qualified during the quarantine) from December 2021 to August 2024.A complete blood count analysis was performed to measure the mean corpuscular volume(MCV) and mean corpuscular hemoglobin(MCH).Polymerase chain reaction(PCR)/agarose gel electrophoresis was used to detect deletional α-thalassemia mutations.PCR and DNA reverse dot blot hybridization were used to detect 3 common non-deletional α-thalassemia mutations and 17 common β-thalassemia mutations.The test results were then analyzed.Results:Among the 488 sperm donors aged 25.64±4.95 years,15(3.07%,all Han ethnic group) tested positive for thalassemia.This carriage rate was lower than that of the thalassemia population in Chongqing(9.24%).Among the 15 thalassemia carriers,13 had deletional α-gene mutations(-α3.7 genotype in 11 cases[73.33%],-α4.2 genotype in 1 case[6.67%],and-SEA genotype in 1 case [6.67%]),and 2 had non-deletional α-gene mutations(both with the WSM heterozygous mutation).There was only 1 case of abnormal MCV and MCH2 indicators among thalassemia carriers(screening positive rate was 6.67%).Conclusion:Thalassemia screening in sperm donors in CHSB reveals a low thalassemia carriage rate,reflecting geographic(predominantly Sichuan and Chongqing origins) and demographic(healthy men of childbearing potential) characteristics.Given the significant impact of thalassemia on the offspring conceived through sperm donation,it is recommended to conduct thalassemia gene screening among sperm donors in human sperm banks.

关 键 词：重庆地区 捐精志愿者 地中海贫血 基因型分析 

分 类 号：R69[医药卫生—泌尿科学]