全部 标题 作者
关键词 摘要

OALib Journal期刊
ISSN: 2333-9721
费用:99美元

查看量下载量

相关文章

更多...

kcnq4和gjb2基因多态性与职业噪声性听力损失的相关性研究

Keywords: kcnq4,gjb2,噪声性听力损失,基因多态性

Full-Text   Cite this paper   Add to My Lib

Abstract:

?目的:探讨kcnq4和gjb2基因多态性与职业噪声性听力损失的相关性。方法:采用1:1配对病例对照研究,应用pcr和直接测序法,检测了103对噪声性听力损失工人与噪声暴露听力正常工人的kcnq4rs34287852和gjb2rs3751385位点的基因型,分析目的snp位点基因型与职业噪声性听力损失发生的关系。结果:kcnq4rs34287852位点t,g等位基因及各基因型在病例与对照组间的分布差异无统计学意义(p>0.05)。病例组gjb2rs3751385位点c等位基因的频率明显高于对照组(pp结论:gjb2rs3751385位点突变与噪声性听力损失存在相关性,gjb2rs3751385cc基因型可能是噪声性听力损失的易感基因型之一。

References

[1]  nelsondi,nelsonry,concha-barrientosm,etal.theglobalburdenofoccupationalnoise-inducedhearingloss[j].amjindmed,2005,48(6):446-458.
[2]  sliwinska-kowalskam,davisa.noise-inducedhearingloss[j].noise&health,2012,14(61):274-180.
[3]  曲腾飞,龚树生.噪声性聋致病机制及其防护研究[j].国际耳鼻咽喉头颈外科杂志,2013,37(006):318-320.
[4]  王秋菊,mohameda.耳内科疾病相关基础研究与诊治新进展:上篇[j].中华耳科学杂志,2012,10(2):201-207.
[5]  wangemannp.k+cyclingandtheendocochlearpotential[j].hearres,2002,165:1-9.
[6]  naitot,nishiosy,iwasay,etal.comprehensivegeneticscreeningofkcnq4inalargeautosomaldominantnonsyndromichearinglosscohort:genotype-phenotypecorrelationsandafoundermutation[j].plosone,2013,8(5):e63231.
[7]  niel.kcnq4mutationsassociatedwithnonsyndromicprogressivesensorineuralhearingloss[j].curropinotolaryngolheadnecksurg,2008,16(5):441-444.
[8]  pawelczykm,vanlaerl,fransene,etal.analysisofgenepolymorphismsassociatedwithkoncirculationintheinnerearofpatientssusceptibleandresistanttonoise-inducedhearingloss[j].annhumgenet,2009,73(4):411-421.
[9]  zhao,hb,kikuchit,ngezahayoa,etal.gapjunctionsandcochlearhomeostasis[j].jmembiol,2006,209(2/3),177-186.
[10]  richardg,whitetw,smithle,etal.functionaldefectsofcx26resultingfromaheterozygousmissensemutationinafamilywithdominantdeaf-mutismandpalmoplantarkeratoderma[j].humgenet,1998,103(4):393-399.
[11]  matostd,sim?es-teixeirah,cariah,etal.assessingnoncodingsequencevariantsofgjb2forhearinglossassociation[j].genetresint,2011.doi:10.4061/2011/827469.
[12]  kubischc,schroederbc,friedricht,etal.kcnq4,anovelpotassiumchannelexpressedinsensoryouterhaircells,ismutatedindominantdeafness[j].cell,1999,96(3):437-446.
[13]  kharkovetst,harderlinjp,safieddines,etal.kcnq4,ak+channelmutatedinaformofdominantdeafness,isexpressedintheinnerearandthecentralauditorypathway[j].procnatlacadsciusa,2000,97(8):4333-4338.
[14]  vanlaerl,carlssonpi,ottschytschn,etal.thecontributionofgenesinvolvedinpotassium-recyclingintheinnereartonoise-inducedhearingloss[j].hummuta,2006,27:786-795.
[15]  kikuchit,adamsjc,miyabey,etal.potassiumionrecyclingpathwayviagapjunctionsystemsinthemammaliancochleaanditsinterruptioninhereditarynonsyndromicdeafness[j].medelectronmicrosc,2000,33(2),51-56.
[16]  grifaa,wagnerca,d'ambrosiol,etal.mutationsingjb6causenonsyndromicautosomaldominantdeafnessatdfna3locus[j].natgenet,1999,23(1):16-18.
[17]  zelantel,gasparinip,estivillx,etal.connexin26mutationsassociatedwiththemostcommonformofnonsyndromicneurosensoryautosomalrecessivedeafness(dfnb1)inmediterraneans[j].hummolgenet,1997,6(9):1605-1609.
[18]  sliwinska-kowalskam,pawelczykm.contributionofgeneticfactorstonoise-inducedhearingloss:ahumanstudiesreview[j].mutatres,2013,752(1):61-65.
[19]  kokotash,vanlaerl,grigoriadoum,etal.stronglinkagedisequilibriumforthefrequentgjb235delgmutationinthegreekpopulation[j].amjmedgenet,2008,146(22):2879-2884.
[20]  grilloap,deoliveirafm,decarvalhogq,etal.singlenucleotidepolymorphismsofthegjb2andgjb6genesareassociatedwithautosomalrecessivenonsyndromichearingloss[j].biomedresint,2015.doi:10.1155/2015/318727.
[21]  grzybowskaea,wilczynskaa,siedleckija.regulatoryfunctionsof3'-utrs[j].biochembiophresco,2001,288(2):291-295.

Full-Text

Contact Us

service@oalib.com

QQ:3279437679

WhatsApp +8615387084133