天津漢族群體D21S1411和D21S1413 STR基因座遺傳多態(tài)性的研究.pdf

1、中文摘要中文摘要目的利用PCR和PAGE技術(shù)，對(duì)天津地區(qū)漢族群體21號(hào)染色體的D21S1411和D21S1413兩個(gè)STR基因座進(jìn)行分型，調(diào)查其遺傳多態(tài)性，為唐氏綜合征基因診斷和產(chǎn)前基因診斷提供依據(jù)，并獲取群體遺傳學(xué)數(shù)據(jù)，為法醫(yī)學(xué)應(yīng)用、人類遺傳學(xué)研究等提供基礎(chǔ)數(shù)據(jù)。方法隨機(jī)選擇天津地區(qū)無親緣關(guān)系的漢族個(gè)體203例(其中男性101例，女性102例)，采集其外周血，分離白細(xì)胞，提取基因組DNA，復(fù)合擴(kuò)增D21S1411和D21S1413基因

2、座，PAGE硝酸銀染色技術(shù)檢測(cè)PCR擴(kuò)增產(chǎn)物。根據(jù)銀染后的凝膠圖像，挑選兩個(gè)基因座所有的純合子建立D21S1411和D21S1413兩個(gè)基因座各自的等位基因分型標(biāo)準(zhǔn)階梯。掃描銀染后的所有凝膠圖像，經(jīng)凝膠圖像分析管理軟件分析，與等位基因分型標(biāo)準(zhǔn)階梯比對(duì)，確定203例樣本各自的基因型。根據(jù)兩個(gè)STR基因座的基因型分布進(jìn)行HardyWeinberg平衡檢驗(yàn)，計(jì)算兩個(gè)STR基因座等位基因頻率、雜合度、多態(tài)信息量、個(gè)體識(shí)別率、非父排除率等群體遺傳

3、學(xué)數(shù)據(jù)。結(jié)果1，分別建立D2151411和D21S1413STR基因座等位基因分型標(biāo)準(zhǔn)階梯。2.天津地區(qū)漢族群體203例樣本中D2151411基因座共發(fā)現(xiàn)9種等位基因，頻率分別為12.6%11.1%16.5%18.0%12.6%9.9%13.8%2.5%、3.2%，發(fā)現(xiàn)42種基因型，基因型分布符合HardyWeinberg平衡定律。D21S1411基因座雜合度為73.40，多態(tài)信息量為0.85，個(gè)體識(shí)別率為0.967非父排除率為0.48

4、303.天津地區(qū)漢族群體203例樣本中D21S1413基因座共發(fā)現(xiàn)7種等位基因，頻率分別為9.9%20.4%18.7%8.9%14.8%16.5%10.8%發(fā)現(xiàn)27種基因型，基因型分布符合HardyWeinberg平衡定律。D21S1413基因座雜合度為86.21%，多態(tài)信息量為0.83，個(gè)體識(shí)別率為0.949，非父排除率為0.7190結(jié)論1.D21S1411和D21S1413STR基因座在天津地區(qū)漢族群體中有較高的雜合度，是21號(hào)染色

5、體良好的遺傳標(biāo)記。AbstractAbstractO川ectiveToinvestigatethegenotypeandgeneticpolymorphismdistributionoftwoSTRlociD21S1411andD21S1413locatedonchromosome21intheHanpopulationlivedinTianjinwiththetechnologyofPCRandPAGE.Theaimofthestud

6、ywastoprovidebasicdatafortheuseoftwoSTRlociingenediagnoseandprenatalgenediagnoseofDownssyndrome.MethodsBloodsamplesfrom203unrelatedindividualsofHannationalityinTianjinareaswerecollectedrandomlyincluding101malesand102fema

7、les.GenomeDNAwasextractedfromthewhitebloodcells.AmultiplexPCRinvolvingD21S1411andD21S1413lociwasused.Nondegenerationpolyacrlamidegelelectrophoresisandsilverstainingwereperformedtodetecttheamplificationproducts.Accordingt

8、otheimagesofstainedgelsthesizesofthehomozygotewererecordedtobuildthealleleladders.Alltheimagesofthestainedgelswereanalyzedthroughgelimageanalysissoftware.ThesizesofthePCRproductsweredeterminedandcomparedwiththealleleladd

9、ers.Asaresultthegenotypesofthetwolociofallthe203sampleswereidentified.ThefrequenciesofthegenotypesweretestedwithHardyWeinbergequilibrium.Geneticalanalysiswasperformedtoconcludesomedataofpopulationgeneticssuchasthefrequen

10、cyoftheallelestheheterozygositythepolymorphisminformationcontenttheprobabilityofdiscriminationpowerandtheprobabilityofexclusion.Results1.ThealleleladdersoftheD21S1411andD21S1413locihadbeenbuilt.2.9allelesoftheD21S1411loc

11、uswereobservedinthe203normalindividualsofHannationalitylivedinTianjinareaswhosefrequencieswere12.6%11.1%16.5%18.0%12.6%9.9%13.8%2.5%and3.2%respectively.42genotypeswereobservedandthefrequenciesofthegenotypeswereingoodagre