摘要
目的:了解重庆地区育龄人群地中海贫血基因携带率、基因类型及分布特征,探讨更全面准确的地中海贫血筛查方案。方法:对2018年11月1日至2020年8月30在重庆医科大学附属第三医院行常规产前检查的孕妇及其配偶行常规血液学筛查及二代基因测序技术,并进行地中海贫血基因检测。结果:1841例受检者中确诊为地中海贫血的110例,地中海贫血基因筛查阳性率约为5.98%(110/1841),其中α-地中海贫血占比64.55%,β-地中海贫血占比35.45%;检测出IVS-I-38(C>T)杂合,-50(G>A)β+杂合,5′UTR+43 to+40(-AAAC)β+杂合,Codon53(-T)杂合4种共6例不在23种常规检测范围内的突变型;新发现了HBB:c.-147G>A(5UTR)杂合,HBA2:c.301-6G>A(intron)杂合2例新基因突变病例。结论:二代基因测序技术筛查地中海贫血准确和高效,可为地中海贫血相关诊断流程、遗传咨询、生育指导提供一部分有价值的理论依据。
Objective:To investigate the gene carrying rate, gene types, and distribution characteristics of thalassemia in the reproductive age population in Chongqing and to explore a more comprehensive and accurate screening strategy for thalassemia.Methods:Pregnant women and their spouses who underwent pregnancy examinations in our hospital from November 1,2018 to August 30,2020 were received routine hematological screening and Next-generation sequencing thalassemia gene detections.Results:Among 1841 tested individuals, 110 cases were diagnosed with thalassemia.The positive rate of thalassemia gene screening was about 5.98%(110/1841),among which 64.55% were α thalassemia and 35.45% were β thalassemia.Four mutants in six cases were not in the 23 conventional tests, including IVS-I-38(C>T)、-50(G>A)beta+、5′UTR+43 to +40(-AAAC)beta+、Codon53(-T).We also found 2 new mutants, HBB:c.-147 G>A(5 UTR)、HBA2:c.301-6 G>A(intron).Conclusions:Next-generation sequencing technology is more accurate and efficient in screening thalassemia.This study can provide the valuable theoretical basis for the diagnosis process, genetic counseling and reproduction instructions of thalassemia.
作者
左欣曌
苏萍
于小雯
姚茜
徐竞
俞丽丽
张碧容
樊晓蓉
程丽历
胡珊
易萍
ZUO Xinzhao;SU Ping;YU Xiaowen(Department of Gynecology and Obstetrics Center,The Third Affiliated Hospital of Chongqing Medical University,Chongqing 401120,China)
出处
《实用妇产科杂志》
CAS
CSCD
北大核心
2022年第2期146-149,共4页
Journal of Practical Obstetrics and Gynecology
基金
重庆市科卫联合医学科研项目(编号:2018ZDXM039)。
