Zheng Hai-Qing, Yu Xiang-Yuan, Zeng Dan, Feng Qiao, Zhu Chun-Jiang
Department of Genetics and Precision Medicine Laboratory, Affiliated Hospital of Guilin Medical University, Guilin 541001, Guangxi Zhuang Autonomous Region, China.
Department of Epidemiology and Health Statistics, School of Public Health, Guilin Medical University, Guilin 541001, Guangxi Zhuang Autonomous Region, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Dec;29(6):1892-1895. doi: 10.19746/j.cnki.issn.1009-2137.2021.06.034.
To investigate the types and frequencies of thalassemia genes carried by the pregnant women in Guilin, Guangxi Zhuang Autonomous Region, China.
From January 2015 to December 2019, blood samples of the pregnant women who visited the Outpatients of Obstetrics clinic and Eugenics Genetic clinic in Affiliated Hospital of Guilin Medical University were collected. Gap-PCR was used to detect deletional α-thalassemia, PCR-RDB to detect the gene mutations of non-deletional α-thalassemia and β-thalassemia, and MLPA or DNA sequencing to detect rare thalassemia mutations. Different types and frequencies of thalassemia mutations carried by pregnant women were analyzed statistically.
A total of 19 482 blood samples were collected, including 3 801 thalassemia gene carriers (19.51%). Seven types of α-thalassemia gene mutation were detected with a carrier rate of 15.43%. Among them, -- deletion (7.32%), -α deletion (3.97%), and -α deletion (1.4%) were the commonest types. Twelve types of β-thalassemia mutations were detected with a carrier rate of 5.02%. Among them, CD41-42 (-TCTT) (2.32%), CD17 (AAG>TAG) (1.23%), and IVS-II-654 (C>T) (0.55%) were the commonest types. In addition, 107 cases of rare thalassemia gene mutations and abnormal hemoglobin were found at the same time.
Guilin is a high-risk area for thalassemia. Alpha-thalassemia is dominated by -- deletion, -α deletion, and -α deletion, while β-thalassemia is by CD41-42 (-TCTT), CD17(AAG>TAG), and IVS-II-654(C>T).
调查中国广西壮族自治区桂林市孕妇携带地中海贫血基因的类型及频率。
收集2015年1月至2019年12月期间到桂林医学院附属医院产科门诊及优生遗传门诊就诊的孕妇血液样本。采用缺口聚合酶链反应（Gap-PCR）检测缺失型α地中海贫血，聚合酶链反应-反向点杂交（PCR-RDB）检测非缺失型α地中海贫血和β地中海贫血基因突变，多重连接探针扩增（MLPA）或DNA测序检测罕见地中海贫血突变。对孕妇携带的不同类型地中海贫血突变及其频率进行统计学分析。
共收集19482份血液样本，其中地中海贫血基因携带者3801例（19.51%）。检测到7种α地中海贫血基因突变类型，携带率为15.43%。其中，--缺失（7.32%）、-α缺失（3.97%）和-α缺失（1.4%）为最常见类型。检测到12种β地中海贫血基因突变类型，携带率为5.02%。其中，CD41-42（-TCTT）（2.32%）、CD17（AAG>TAG）（1.23%）和IVS-II-654（C>T）（0.55%）为最常见类型。此外，同时发现107例罕见地中海贫血基因突变和异常血红蛋白。
桂林是地中海贫血高发地区。α地中海贫血以--缺失、-α缺失和-α缺失为主，β地中海贫血以CD41-42（-TCTT）、CD17（AAG>TAG）和IVS-II-654（C>T）为主。
