昆明地区5284例孕妇地中海贫血基因检测分析  

Genetics Analysis for Thalassemia in 5284 Pregnant Women in Kunming

作　　者：唐健 吕梦欣 何建萍[1] 罗胜军 党峰博[1] 钱源[2] 罗兰[3] TANG Jian;LV Meng-xin;HE Jian-ping;LUO Sheng-jun;DANG Feng-bo;QIAN Yuan;LUO Lan(Dept.Of Medical Genetics and Prenatal Diagnosis,Kunming Maternal and Child Health Hospital,Kunming Yunnan 650031;Yunnan Key Laboratory of Laboratory Medicine,1st Affiliated Hospital of Kunming Medical University,Kunming Yunnan 650032;Dept.Of Cell Biology and Medical Genetics,Kunming Medical University,Kunming Yunnan 650500,China)

机构地区：[1]昆明市妇幼保健院医学遗传与产前诊断科,云南昆明650031 [2]昆明医科大学第一附属医院,云南省检验医学重点实验室,云南昆明650032 [3]昆明医科大学细胞生物学与医学遗传学系,云南昆明650500

出　　处：《昆明医科大学学报》2020年第7期80-84,共5页Journal of Kunming Medical University

基　　金：云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目(2018FZ001-187);昆明市科技保障民生发展计划项目(昆科计字2019-1-S-25318000001022);昆明市卫生科技人才培养项目“十百千”工程培养计划(2020-SW(后备)-98)。

摘　　要：目的探讨昆明地区孕妇地中海贫血基因突变谱,为昆明地区地贫防控体系的构建提供参考数据。方法对2019年上半年来昆明市妇幼保健院做常规产检的5284例孕妇行23型常见地贫基因型检测。结果确诊地贫基因携带者313例,昆明地区孕妇地贫总携带率为5.92%。检出α-地贫229例,占地贫总携带数的73.16%,基因型以αα/-α^3.7型、αα/--^SEA型、αα/-α^4.2型最为常见;检出β-地贫80例,占地贫总携带数的25.56%,基因型以βEM/N型、IVS-Ⅱ-654M/N型、CD17M/N型最为常见;检出复合型地贫5例,占地贫总携带数的1.60%。上述三种地贫类型构成,差异有统计学意义(P<0.01)。结论昆明地区人群的地贫基因突变谱与我国南方其他地区有所不同,多见αα/-α^3.7、αα/--^SEA、βEM/N、IVS-Ⅱ-654M/N和CD17M/N这5种基因型。Objective To investigate the gene mutation spectrum of thalassemia in pregnant women,so as to provide reference data for the thalassemia prevention and control system in Kunming.Methods 5,284 pregnant women from the obstetrics clinic of Kunming Maternal and Child Health Hospital from January 2019 to June 2019 were undergone 23 kinds of genotypes analysis of thalassemia.Results 313 cases of thalassemia carriers were detected.The total carrier rate of thalassaemia among pregnant women in Kunming was 5.92%.Among them,229 cases ofα-thalassaemia were detected,accounting for 73.16%of the total carrier rate of thalassemia.The genotypes ofαα/-α^3.7,αα/--^SEA,andαα/-α^4.2 were most common.80 cases ofβ-thalassaemia were detected,which accounted for 25.56%of the total carrier rate of thalassemia.The genotypes ofβEM/N,IVS-Ⅱ-654 M/N,and CD17 M/N were most common.5 cases of compound thalassaemia were detected,accounting for 1.60%of the total carrier rate of thalassemia.The three types of thalassemia had statistically significant difference(P<0.01).Conclusions The gene mutation spectrum of thalassaemia in Kunming area is different from that of other areas in southern China.αα/-α^3.7,αα/--^SEA,βEM/N,IVS-Ⅱ-654 M/N,CD17 M/N are more common in Kunming.

关 键 词：Α-地中海贫血 Β-地中海贫血 基因突变谱 昆明地区 孕妇 

分 类 号：R394.3[医药卫生—医学遗传学]