鹤庆县婚前婚配及孕产期群体地中海贫血的筛查和基因分析
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摘要
目的:把握鹤庆县婚前婚配及孕产期群体地中海贫血的发生及分布情况,了解其常见类型及基因分布特征,为该地区地中海贫血的预防和早期干预提供科学依据。方法:(1)采用分层随机抽样的方法确定1 303例受检者;(2)血红蛋白醋酸纤维素薄膜电泳初筛;(3)对异常条带采用Gap-PCR及PCR-RDB技术进行基因诊断;(4)DNA测序;(5)建立家族遗传图谱。结果:(1)筛查出β地中海贫血阳性31例,其中29例为CD26型,2例为CD56型;(2)α地中海贫血未检出。结论:(1)鹤庆县婚前婚配及孕产期群体β地中海贫血的携带率为2.38%;(2)鹤庆地区β地中海贫血主要为CD26型;(3)检测结果对鹤庆地区优生优育、预防重型地中海贫血患儿的出生意义十分重大。
Objective: To have a good understanding of the incidence and distribution of thalassemia in premarital and gestational populations in Heqing County, to find out the common types and gene distributions of thalassemia in this area, and to provide a scientific basis for the prevention and early intervention of thalassemia. Methods:(1) 1 303 subjects were determined by using stratified random sampling method;(2) hemoglobin acetate film electrophoresis method was applied to screen the samples;(3) GapPCR and PCR-RDB technology was used to check the positive cases for gene diagnosis;(4) and then DNA sequencing;(5) at last, the family genetic maps were established. Results:(1) 31 cases were positive for β-thalassaemia, in which 29 cases were heterozygous for a codon 26 mutation and 2 cases were heterozygous for a codon 56 mutation.(2) There was no case found positive for α-thalassemia.Conclusion:(1) β-thalassaemia carrying rate in premarital and gestational populations in Heqing county amount for 2.38%.(2) CD26 is the most common genotype of β-thalassemia in the area's population.(3) The test results are very significant for prenatal and postnatal care and the prevention of the incidence of heavy thalassemia at birth.
Objective: To have a good understanding of the incidence and distribution of thalassemia in premarital and gestational populations in Heqing County, to find out the common types and gene distributions of thalassemia in this area, and to provide a scientific basis for the prevention and early intervention of thalassemia. Methods:(1) 1 303 subjects were determined by using stratified random sampling method;(2) hemoglobin acetate film electrophoresis method was applied to screen the samples;(3) GapPCR and PCR-RDB technology was used to check the positive cases for gene diagnosis;(4) and then DNA sequencing;(5) at last, the family genetic maps were established. Results:(1) 31 cases were positive for β-thalassaemia, in which 29 cases were heterozygous for a codon 26 mutation and 2 cases were heterozygous for a codon 56 mutation.(2) There was no case found positive for α-thalassemia.Conclusion:(1) β-thalassaemia carrying rate in premarital and gestational populations in Heqing county amount for 2.38%.(2) CD26 is the most common genotype of β-thalassemia in the area's population.(3) The test results are very significant for prenatal and postnatal care and the prevention of the incidence of heavy thalassemia at birth.
引文
[1]朱鸿斌,何勤.地中海贫血发病机制的研究进展[J].医学综述,2011,17(11):1616-1618.
[2]张瀚文,杨雯,贺静,等.云南省地中海贫血的血液学初筛与分析[J].中国妇幼保健,2016,31(11):2344-2348.
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[6]莉琴,邹团标,杨发斌,等.云南边境10个少数民族儿童地中海贫血的流行病学调查[J].中华医学遗传学杂志,2011,28(5):579-582.
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[12]戴庆福,李晓璐,王玉霞,等.中国福建省龙岩地区地中海贫血基因突变类型的分析[J].中国实验血液学杂志,2017,25(2):498-502.
[13]吴琦嫦,周裕林,江雨,等.厦门地区β地中海贫血基因突变类型及产前基因诊断研究[J].中国优生与遗传杂志,2007,15(12):25-26.
[14]王莉,刘爱国,张柳清,等.湖北地区儿童地中海贫血基因型分析[J].临床血液学杂志,2017,30(6):850-852.
[15]聂益军,吕小林,林慧,等.江西地区455例地中海贫血的筛查结果分析[J].实验与检验医学,2017,35(4):458-460.
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[19]何建维,黄恒柳,张燕,等.重庆地区地中海贫血基因突变类型分析[J].国际检验医学杂志,2014,35(18):2488-2489.
[20]王玉丰,田秀娟,周玉海,等.三亚地区育龄妇女β-地中海贫血分子流行病学调查[J].中国优生与遗传杂志,2017,25(10):56-58.
[21]付月,刘文君,邓正华,等.四川泸州地区228例0~18岁地中海贫血患儿基因类型分析[J].现代预防医学,2017,44(7):1212-1216.
[22]刘兴梅,苏莉,李贵芳,等.贵州地区重型β-地中海贫血基因突变类型分析[J].贵阳医学院学报,2016,41(4):407-409.
[23]邹团标,王蓉,姚莉琴,等.孕17周前夫妇地中海贫血流行病学分析[J].大理大学学报,2017,2(10):58-62.
[24]杨跃煌,李翠莲,刘洪玉,等.41例地中海贫血患者的基因诊断与临床分析[J].中华妇幼临床医学杂志(电子版),2007,3(4):209-212.
[25]贾冰,林志芳,纪新梅,等.常用筛查方法在地中海贫血诊断中的临床应用[J].检验医学与临床,2010,7(13):1339-1340.
[26]XU L H,FANG J P.The Current Status ofβ-Thalassemia Major in Mainland China[J].Hemoglobin,2013,37(4):307-314.
[27]何柯新,王会敏,麦静雯,等.红细胞脆性、MCV、MCH、Hb A2在诊断地中海贫血中的应用[J].临床医学工程,2017,24(2):181-182.
[28]王燕燕,李晓辉,徐西华.地中海贫血诊治进展与我国现状[J].中国实用儿科杂志,2013,28(6):473-476.
[2]张瀚文,杨雯,贺静,等.云南省地中海贫血的血液学初筛与分析[J].中国妇幼保健,2016,31(11):2344-2348.
[3]CHAKRABARTY P,RUDRA S,HOSSAIN M A,et al.Iron chelation therapy and thalassemia:an overview[J].Mymensingh Med J,2011,20(3):513-519.
[4]COUSENS N E,GAFF C L,METCALFE S A,et al.Carrier screening for Beta-thalassaemia:a review of international practice[J].Eur J Hum Genet,2010,18(10):1077-1083.
[5]石西南,褚嘉佑,杨昭庆.中国不同省区β地中海贫血基因变异的分布特征[J].医学综述,2011,17(4):495-497.
[6]莉琴,邹团标,杨发斌,等.云南边境10个少数民族儿童地中海贫血的流行病学调查[J].中华医学遗传学杂志,2011,28(5):579-582.
[7]陈祖聪,葛世军,番云华,等.德宏地区血红蛋白病在贫血病人中的比例及在各民族间的分布情况[J].大理学院学报,2007,6(S1):259.
[8]赵钟鸣,姚莉琴,范丽梅,等.云南省两边境州六民族0~7岁儿童地中海贫血流行病学调查[J].中华流行病学杂志,2011,32(4):352-356.
[9]杨艳秋,番云华.平均血红蛋白量在地中海贫血筛查中的价值探讨[J].大理学院学报,2009,8(6):30-32.
[10]XU X M,ZHOU Y Q,LUO G X,et al.The prevalence and spectrum ofαandβthalassaemia in Guangdong Province:implications for the future health burden and population screening[J].J Clin Pathol,2004,57(5):517-522.
[11]XIONG F,SUN M,ZHANG X,et al.Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China[J].Clin Genet,2010,78(2):139-148.
[12]戴庆福,李晓璐,王玉霞,等.中国福建省龙岩地区地中海贫血基因突变类型的分析[J].中国实验血液学杂志,2017,25(2):498-502.
[13]吴琦嫦,周裕林,江雨,等.厦门地区β地中海贫血基因突变类型及产前基因诊断研究[J].中国优生与遗传杂志,2007,15(12):25-26.
[14]王莉,刘爱国,张柳清,等.湖北地区儿童地中海贫血基因型分析[J].临床血液学杂志,2017,30(6):850-852.
[15]聂益军,吕小林,林慧,等.江西地区455例地中海贫血的筛查结果分析[J].实验与检验医学,2017,35(4):458-460.
[16]裴元元,冉健,魏凤香.深圳地区学龄前儿童贫血状况及地中海贫血基因突变类型[J].实用医学杂志,2017,33(1):131-133.
[17]何怡,娄季武,唐莉,等.东莞地区地中海贫血产前筛查及产前诊断的研究[J].中华临床医师杂志(电子版),2013,7(16):7597-7599.
[18]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.
[19]何建维,黄恒柳,张燕,等.重庆地区地中海贫血基因突变类型分析[J].国际检验医学杂志,2014,35(18):2488-2489.
[20]王玉丰,田秀娟,周玉海,等.三亚地区育龄妇女β-地中海贫血分子流行病学调查[J].中国优生与遗传杂志,2017,25(10):56-58.
[21]付月,刘文君,邓正华,等.四川泸州地区228例0~18岁地中海贫血患儿基因类型分析[J].现代预防医学,2017,44(7):1212-1216.
[22]刘兴梅,苏莉,李贵芳,等.贵州地区重型β-地中海贫血基因突变类型分析[J].贵阳医学院学报,2016,41(4):407-409.
[23]邹团标,王蓉,姚莉琴,等.孕17周前夫妇地中海贫血流行病学分析[J].大理大学学报,2017,2(10):58-62.
[24]杨跃煌,李翠莲,刘洪玉,等.41例地中海贫血患者的基因诊断与临床分析[J].中华妇幼临床医学杂志(电子版),2007,3(4):209-212.
[25]贾冰,林志芳,纪新梅,等.常用筛查方法在地中海贫血诊断中的临床应用[J].检验医学与临床,2010,7(13):1339-1340.
[26]XU L H,FANG J P.The Current Status ofβ-Thalassemia Major in Mainland China[J].Hemoglobin,2013,37(4):307-314.
[27]何柯新,王会敏,麦静雯,等.红细胞脆性、MCV、MCH、Hb A2在诊断地中海贫血中的应用[J].临床医学工程,2017,24(2):181-182.
[28]王燕燕,李晓辉,徐西华.地中海贫血诊治进展与我国现状[J].中国实用儿科杂志,2013,28(6):473-476.