海南省昌江县孕妇β-地贫的基因突变类型
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摘要
目的探讨海南昌江孕妇群β-地贫的基因型突变类型。方法收集海南省昌江县人民医院和昌江县中西医结合医院两家医院地贫筛查者共2 191例,经基因检测确诊为β-地贫有160例,再抽其EDTA-K2抗凝全血标本,进行基因扩增反向点杂交法检测常见17个位点突变。结果在2 191例地贫筛查者中,共检出β地贫基因携带者160例,其携带率为7.30%(160/2 191)。共检出5种基因突变类型,CD41-42(CTTT)突变占绝对优势,常见的还有IVS-II-654(C-T)突变、CD17(A-T)无义突变、TATA盒-nt-28(A-C)突变、71-72(+A)移码突变等类型,其构成比分别为80.63%(129/160)、7.50%(12/160)、5.00%(8/160)、3.12%(5/160)、3.75%(6/160)。结论海南昌江地区是β-地贫高发区,应做好育龄夫妇的地贫筛查、基因诊断和遗传咨询,对预防重型β-地贫患儿的出生具有重要意义。
Objective To investigate the genotype of β-thalassemia of pregnant women in Changjiang county of Hainan.Methods 2 191 pregnant women from Hainan province and Changjiang County People′ s Hospital were screened β-thalassemia;160 cases were detected. The 17 common mutation of β-globin gene were detected by PCR reverse dot blot analysis. Results In 2 191 cases of thalassemia screening for beta β-thalassemia,160 cases were detected,with a positive rate of 7.30%(160/2 191). There were 5 kinds of gene mutations;this study found that the frewquencies of CD41-42(CTTT)mutation,IVS-II-654(C-T)mutation,CD17(A-T)nonsense mutation,TATA box-nt-28(A-C),71-72(+A)mutatios,and frameshift mutations were 80.63%(129/160),7.50%(12/160),5.00%(8/160),3.12%(5/160),and3.75%(6/160),respectively. Conclusion In Changjiang county of Hainan,the incidence of β-thalassemia is high,so screening of β-thalassemia for the couples of childbearing age is of great importance for the prevention new born babies with severe beta thalassemia.
Objective To investigate the genotype of β-thalassemia of pregnant women in Changjiang county of Hainan.Methods 2 191 pregnant women from Hainan province and Changjiang County People′ s Hospital were screened β-thalassemia;160 cases were detected. The 17 common mutation of β-globin gene were detected by PCR reverse dot blot analysis. Results In 2 191 cases of thalassemia screening for beta β-thalassemia,160 cases were detected,with a positive rate of 7.30%(160/2 191). There were 5 kinds of gene mutations;this study found that the frewquencies of CD41-42(CTTT)mutation,IVS-II-654(C-T)mutation,CD17(A-T)nonsense mutation,TATA box-nt-28(A-C),71-72(+A)mutatios,and frameshift mutations were 80.63%(129/160),7.50%(12/160),5.00%(8/160),3.12%(5/160),and3.75%(6/160),respectively. Conclusion In Changjiang county of Hainan,the incidence of β-thalassemia is high,so screening of β-thalassemia for the couples of childbearing age is of great importance for the prevention new born babies with severe beta thalassemia.
引文
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[12]涂志华,吴维学,吉家安,等.海南省东方市育龄夫妇地贫基因检测结果分析[C].2013海南省第五届生命科学联合学术会议,2013:281-285.Tu ZH,Wu WX,Ji JA,et al.Poor Prenatal Genetic Test Results Analysis for childbearing couples in Dongfang City of Hainan Province[C].2013 Joint Academic Conference on Life Sciences in Hainan Province,Fifth,2013:281-285.
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[14]姚红霞,吴志明,吴从明,等.海南黎族成人血红蛋白含量及地中海贫血基因频率的调查[J].中国热带医学,2004,4(5):699-610.Yao HX,Wu ZM,Wu CM,et al.Survey of the hemoglobin and gene frequency of thalathemia in Li Nationality people in Hainan Province[J].China Tropical Medicine,2004,4(5):699-610.
[15]徐卫华,陈鑫萍,符生苗.海南地区地中海贫血基因分型及频率的研究[J].中国热带医学,2013,13(7):804-806.Xu WH,Chen JP,Fu SM,et al.Genotyping and frequency of fthalassemia in Hainan province[J].China Tropical Medicine,2013,13(7):804-806.
[16]张继业,李晓娟,符生苗.海南省地中海贫血基因频率分析[J].海南医学,2016,27(8):1228-1230.Zhang JY,Li XJ,Fu SM.Analysis of gene mutation spectrum of thalassemia patients in Hainan[J].Hainan Med J,2016,27(8):1228-1230.
[17]赵文忠,李铭臻,顾恒,等.广东省孕前高危夫妇地中海贫血基因诊断结果分析[J].热带医学杂志,2015,15(3):319-320.Zhao WZ,Li MZ,Gu H,et al.Genetic screening of prepregnancy high-risk thalassemia couples in Guangdong province[J].J Trop Med,2015,15(3):319-320.
[2]刘富华,贾艺聪,陈洁晶,等.广西地区13 589例地中海贫血筛查结果及基因突变类型分析[J].临床血液学杂志,2015,28(11):966-969.Liu FH,Jia YC,Chen JJ,et al.Screeningand gene mutation type of 13 589 cases with thalassemia in Guangxi region[J].J Clin Hematol,2015,28(11):966-969.
[3]胡浩,刘沁,贾政军,等.湖南部分地区β地中海贫血分子遗传学背景调查[J].中国优生与遗传杂志,2015,23(3):12-13.Hu J,Liu Q,Jia ZJ,et al.Investigation on molecular genetic basis ofβthalassemia in Hunan area[J].Chinese Journal of Birth Health&Heredity,2015,23(3):12-13.
[4]游雪云,刘艳秋,吴敏,等.226例β地中海贫血基因携带者筛查与基因突变类型的探讨[J].中国妇幼保健,2016,31(1):125-126.You XY,Liu YQ,Wu M,et al.Screening of 226 carriers ofβ-thalassemia gene and discussion of gene mutation types[J].Maternal and Child Health Care of China,2016,31(1):125-126.
[5]王林铄,黄海龙,林娜,等.福建地区β-地中海贫血基因突变谱分析[J].中国妇幼保健,2015,30(13):2040-2043.Wang LS,Huang HL,Lin N,et al.Genemutation spectrum analysis ofβ-thalassemia in Fujian[J].Maternal and Child Health Care of China,2015,30(13):2040-2043.
[6]张杰,贺静,曾小红,等.云南省人群地中海贫血遗传多样性的研究[J].昆明医科大学学报,2016,37(1):28-34.Zhang J,He J,Zeng XH,et al.Genetic Heterogeneity of Thalassemia in Yunnan Province[J].Journal of Kunming Medical University,2016,37(1):28-34.
[7]杜伟,欧阳小峰,甘承文,等.重庆地区8 024例地中海贫血筛查结果及地贫基因型分析[J].重庆医科大学学报,2014,39(5):694-697.Du W,Ouyang XF,Gan CW,et al.Screening results and genetic diagnosis of thalassemia in 8 024 cases in Chongqing region[J].Journal of Chongqing Medical University,2014,39(5):694-697.
[8]马星卫,许吟,戴薇,等.贵阳地区1 143例孕妇地中海贫血筛查及基因检测结果分析[J].重庆医学,2013,42(17):1990-1991.Ma XW,Xu Y,Dai W,et al.Analysis of the results of screening and genetic diagnosis of thalassemia for 1 143 pregnant women from Guiyang region[J].Chongqing Medicine,2013,42(17):1990-1991.
[9]涂志华,吴维学,王小鹏,等.海南省陵水县育龄夫妇地中海贫血筛查结果分析[C].2013海南省第五届生命科学联合学术会议,2013:286-290.Tu ZH,Wu WX,Wang XP,et al.Analysis of screening results of thalassemia among married couples of childbearing age in Lingshui County of Hainan Province[C].2013 Joint Academic Conference on Life Sciences in Hainan Province,Fifth,2013:286-290.
[10]石秀凤,林明影,陈求珠,等.三亚地区早期妊娠地中海贫血流行现状及其基因型分析[J].中国优生与遗传杂志,2017,25(8):27-29,53.Shi XF,Lin MY,Chen QZ,et al.Prevalent state and genotyping of thalassemia in early pregnancy from Sanya district[J].Chinese Journal of Birth Health&Heredity,2017,25(8):27-29,53.
[11]陈运春,王海波,吴智明,等.海南省1 620例地中海贫血基因突变检测分析[J].中国优生与遗传杂志,2014,22(2):18-19.Chen YC,Wang HB,Wu ZM,et al.Gene mutations associated with thalassaemia in Hainan province[J].Chinese Journal of Birth Health&Heredity,2014,22(2):18-19.
[12]涂志华,吴维学,吉家安,等.海南省东方市育龄夫妇地贫基因检测结果分析[C].2013海南省第五届生命科学联合学术会议,2013:281-285.Tu ZH,Wu WX,Ji JA,et al.Poor Prenatal Genetic Test Results Analysis for childbearing couples in Dongfang City of Hainan Province[C].2013 Joint Academic Conference on Life Sciences in Hainan Province,Fifth,2013:281-285.
[13]许少珍,吴玉,孙有刚,等.琼海市育龄人群地中海贫血筛查及基因分析[J].中国热带医学,2015,15(2):234-235,240.Xu SZ,Wu Y,Sun YG,et al.Screening and genetic analysis on thalassemia among reproductive population in Qionghai city[J].China Tropical Medicine,2015,15(2):234-235,240.
[14]姚红霞,吴志明,吴从明,等.海南黎族成人血红蛋白含量及地中海贫血基因频率的调查[J].中国热带医学,2004,4(5):699-610.Yao HX,Wu ZM,Wu CM,et al.Survey of the hemoglobin and gene frequency of thalathemia in Li Nationality people in Hainan Province[J].China Tropical Medicine,2004,4(5):699-610.
[15]徐卫华,陈鑫萍,符生苗.海南地区地中海贫血基因分型及频率的研究[J].中国热带医学,2013,13(7):804-806.Xu WH,Chen JP,Fu SM,et al.Genotyping and frequency of fthalassemia in Hainan province[J].China Tropical Medicine,2013,13(7):804-806.
[16]张继业,李晓娟,符生苗.海南省地中海贫血基因频率分析[J].海南医学,2016,27(8):1228-1230.Zhang JY,Li XJ,Fu SM.Analysis of gene mutation spectrum of thalassemia patients in Hainan[J].Hainan Med J,2016,27(8):1228-1230.
[17]赵文忠,李铭臻,顾恒,等.广东省孕前高危夫妇地中海贫血基因诊断结果分析[J].热带医学杂志,2015,15(3):319-320.Zhao WZ,Li MZ,Gu H,et al.Genetic screening of prepregnancy high-risk thalassemia couples in Guangdong province[J].J Trop Med,2015,15(3):319-320.