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时间:2019-05-25
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1、·718·中华肝胆外科杂志2011年9月第17卷第9期ChinJHepatobiliarySurg,September2011,Vo1.17,No.9·论著·ABCA2基因单核苷酸多态性与胆囊结石病的相关性秦俭吴卫则牛振民蒋兆彦张凯悦华琪姜志宏王艺黄薇韩天权张圣道【摘要】目的检测中国人ABCA2(ATPbindingcassetteA2)基因编码区单核苷酸多态性(sin—glenucleotidepblymorphism,SNP),并探讨其与中国汉族人群胆囊结石病的关系。方法采用直接测序法检测ABCA2基因编码区及相邻的部分内含子的序列,以确
2、定中国人ABCA2基因SNPs的位置及类型。对位于编码区的SNPs,采用病例对照方法,在胆囊结石病患者和正常对照者中进行关联研究。结果在169l1bp测序长度中,共发现12个SNP,2个位于编码区,1O个位于内含子,其中7个为新发现的SNP。各SNPs在胆石病组和对照组中分布差异无统计学意义。结论SNP在不同种族间存在差异。ABCA2基因编码区SNP在胆石病和对照组间分布差异无统计学意义。【关键词】胆囊结石病;ABCA2基因;单核苷酸多态性TheassociationofsinglenucleotidepolymorphisminhumanA
3、BCA2genewithgallstonediseaseQJNJian,WUWei—ze,NIUZheng—min,JIANGZhao—yan,zHANGKai—yue,HUAQi,JIANGZhi—hong,W_ANGYi,HUANGW,HANTian—quan,ZHANGSheng—dao.DepartmentofSurgery,RuijinHospital,ShanghaiJiaotongUniversity,ShanghaiInstituteofDigestiveSurgery,Shang—hai200025,P.R.ChinaCor
4、respondingauthor:WUWe—ze,Email:digsurgrj@yahoo.corn.cn[Abstract]ObjectiveToinvestigatethesinglenucleotidepolymorphisms(SNPS)inthecodingregionsofthehumanABCA2geneandtodeterminetheassociationofsomeoftheseSNPswithgall—stonediseaseinaChinesepopulation.MethodsTheexonsandpartofth
5、eintronsoftheABCA2geneweresequencedusingafluorescent1abelingautomaticmethodin24patientswithgallstonediseasetoi-dentifyandcharacterizetheSNPsinaChinesepopulation.ForSNPsintheexons.case—contro1studieswereperformedonpatientsandcontrols.ResultsTwelveSNPswerefoundwithina16911bpr
6、egionoftheABCA2gene.Amongthem,tWOwereintheexons。tenintheintronsandfivewerenove1SNPs.TherewasnosignificantdifferenceintheSNPsgenotypebetweenthepatientsandthecon~trols.ConclusionsThereiSanimportantethnicdifferenceintheSNPsdistributionofthehumanABCA2gene.ThedistributionofSNPsi
7、nthecodingregionsofthehumanABCA2geneisnotsignifi—cantlydifferentbetweenthepatientsandthecontrols.[Keywords]Gallstonedisease;ABCA2gene;Singlenucleotidepolymorphism胆囊结石病(胆石病)是世界范围内的常见病,我们曾将中国汉族人群的胆石病易感基因定位在我国部分地区胆石病发病率超过1O,发病率已于9q33.1~9q34.2I2,ABCA2(ATPbindingcas—接近西方国家水平。r。胆
8、石病发病机制复杂,除受setteA2,ABCA2)基因位于该定位区域内。本研究年龄、性别、肥胖、糖尿病和怀孕等因素影响外,还受对中国人群ABCA2基因编码区SNP(
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