赣南地区客家人重型地中海贫血基因突变类型分析及防治的研究  

Analysis and Prevention of Gene Mutation Types of Severe Thalassemia in Hakka People in Gannan of Jiangxi Province

作　　者：林传明[1] 钟田雨[2] 刘少强[3] 俞钟 刘礼平[1] 赖文鸿[1] 陈小芸[1] 李海亮[1] LIN Chuan-Ming;ZHONG Tian-Yu;LIU Shao-Qiong;YU Zhong;LIU Li-Ping;LAI Wen-Hong;CHEN Xiao-Yun;LI Hai-Liang(Department of Hematology,the First Affiliated Hospital of Gannan Medical College;Department of Laboratorial Medicine,the First Affiliated Hospital of Gannan Medical College;Department of CT/MRI Room,the First Affiliated Hospital of Gannan Medical College,Ganzhou 341000,Jiangxi Province,China)

机构地区：[1]赣南医学院第一附属医院血液科 [2]赣南医学院第一附属医院检验科 [3]赣南医学院第一附属医院CT/MRI室,江西赣州341000

出　　处：《中国实验血液学杂志》2020年第6期2017-2021,共5页Journal of Experimental Hematology

基　　金：江西省自然基金(20132BAB205103);赣州市科技局重点研发计划项目(赣市科发[2018]50号);江西省教育厅2019年立项资助(GJJ180804)。

摘　　要：目的:探讨赣南地区客家人重型地中海贫血基因突变类型及其比例,为本地区地中海贫血的防治、指导遗传咨询及流行病学研究提供一定的参考数据。方法:选择2009年1月-2019年1月赣南医学院第一附属医院收治的客家人重型地中海贫血患者81例,采用跨越断裂点PCR(Gap-PCR)法检测缺失型α-地中海贫血,采用PCR-反向点杂交(PCR-RDB)法检测α-地中海贫血点突变和β-地中海贫血点突变,对我院81例客家人重型地中海贫血患者进行地中海贫血基因检测分析,计算基因突变频率。结果:在81例客家人重型地中海贫血患者中,共检出4种β-地中海贫血(纯合子)基因型,依次是CD41-42(-TTCT)(19例)、β-IVS-II-654(C→T)(9例)、-28M(A→G)(1例)、CD17(A→T)(1例);12种β-地中海贫血(杂合子)基因型,依次是CD41-42(-TTCT)/β-IVS-II-654(C→T)(15例,29.41%),β-IVS-II-654(C→T)/β-28M(A→G)(13例,25.49%);CD41-42(-TTCT)/β-28M(A→G)(9例,17.65%);β-IVS-II-654(C→T)/CD27/28(+C)(3例,5.88%);CD41-42(-TTCT)/CD27/28(+C)(3例,5.88%);β-28M(A→G)/CD17(A→T)(2例,3.92%);CD41-42(-TTCT)/CD17(A→T)、CD41-42(-TTCT)/Βe、β-IVS-II-654(C→T)/β-29、βCD17(A→T)/CD71-72(+a)、βCD71-72/β-28M(A→G)、β-28M(A→G)/β-IVS-II-654(C→T)(各1例,各占1.96%)。β纯合地中海贫血合并α地中海贫血基因3例,β杂合地中海贫血合并α地中海贫血基因5例。结论:江西赣南地区客家人重型β-地中海贫血发病率较高,其基因突变类型分布情况如下:β-地中海贫血(纯合子)以CD41-42(-TTCT)基因型为主;β-地中海贫血(杂合子)以CD41-42(-TTCT)/β-IVS-II-654(C→T)及β-IVS-II-654(C→T)/β-28M(A→G)两种基因型为主;β复合α地中海贫血以CD41-42(-TTCT)基因为主。Objective: To investigate the types and proportion of gene mutations of thalassemia in Hakka people in Gannan Area of Jiangxi,and to provide some references for prevention and treatment of thalassemia major,genetic counseling and epidemiological studies.Methods: 81 cases Hakka patients with severe thalassemia admitted treated in First Affiliated Hospital of Gannan Medical College from January 2009 to June 2019 were enrolled.The deletion type ofα-thalassemia was detected by Gap-PCR.The point mutations of α-thalassemia and β-thalassemia were detected by PCRRDB.The thalassemia gene was detected and analyzed in the patients with anemia,and the frequency of gene mutation was calculated.Results: Among 81 Hakka patients with thalassemia major,4 β-thalassemia(homozygote) genotypes were detected out,including: CD41-42(TTCT)(19 cases),β-IVS-Ⅱ-654(C→T)(9 cases),-28 M(A→G)(1 case),CD17(A→T)(1 case);12 β-thalassemithalassemia(heterozygote) genotypes were detected out,including: CD41-42 (-TTCT)/β-IVS-Ⅱ-654(C→T)(15 cases,29.41%),β-IVS-Ⅱ-654(C→T)/β-28 M(A→G)(13 cases,25.49%);CD41-42(-TTCT)/β-28 M(A→G)(9 cases,17.65%);β-IVS-Ⅱ-654(C→T)/CD27/28(+ C)(3 cases,5.88%);CD41-42(-TTCT)/CD27/28(+ C)(3 case,5.88%);β-28 M(A→G)/CD17(A→T)(2 cases,3.92%);CD41-42(-TTCT)/CD17(A→T),CD41-42(-TTCT)/Βe,β-IVS-Ⅱ-654(C→T)/β-29、βCD17(A→T)/CD71-72(+ a),βCD71-72/β-28 M(A→G),β-28 M(A→G)/β-IVS-Ⅱ-654(C→T)(1 cases,1.96%).There were 3 cases of β homozygous thalassemia with α-thalassemia gene and 5 cases of β heterozygotes thalassemia with α-thalassemia gene.Conclusion:The incidence rate of thalassemia in Hakka people in Gannan Area of Jiangxi is relatively high.The distribution of gene mutation types is as follows: the genotype of CD41-42(-TTCT) is the main genotype of β-thalassemia(homozygous);the major genotypes of β-thalassemia(heterozygotes) are CD41-42(-TTCT)/β-IVS-Ⅱ-654(C→T) and β-IVS-Ⅱ-654(C→T)/β-28 M(A→G);CD41-42(-TTCT) gene is dominant in β-complex α-thalassemia.

关 键 词：重型地中海贫血 基因突变 基因频率 赣南地区 客家人 

分 类 号：R556.61[医药卫生—血液循环系统疾病]