人群中PTC味盲基因频率的分析.pptVIP

*遗传学实验人群中ＰＴＣ味盲基因频率的分析二、实验目的*通过实验掌握人群中ＰＴＣ味盲基因频率的分析方法，加深对群体遗传学中遗传平衡定律的认识。二、实验原理*苯硫脲(phenythiocarbamide,PTC)是一种白色结晶状化合物,其结构由于有N-C=S基团（硫化酰胺基）而呈苦味对人无毒，在不同人群中对该物质的尝味能力不同。这种尝味能力是由一对等位基因(T.t)所决定其中T对t为不完全显性基因型为TT，能尝出1/6000000—1/750000的PTC的苦味；Tt基因型，能尝出1/480000—1/380000溶液的苦味，基因型为tt，能尝出1/24000以上浓度PTC的苦味。极个别体甚至对PTC的结晶也尝不出，这类个体在遗传学上称为PTC味盲。PositionalCloningoftheHumanQuantitativeTraitLocusUnderlyingTasteSensitivitytoPhenylthiocarbamideUn-kyungKim,1EricJorgenson,2HilaryCoon,3,4MarkLeppert,3NeilRisch,2,5DennisDrayna1*Theabilitytotastethesubstancephenylthiocarbamide(PTC)hasbeenwidelyusedforgeneticandanthropologicalstudies,butgeneticstudieshaveproducedconflictingresultsanddemonstratedcomplexinheritanceforthistrait.Wehaveidentifiedasmallregiononchromosome7qthatshowsstronglinkagedisequilibriumbetweensingle-nucleotidepolymorphism(SNP)markersandPTCtastesensitivityinunrelatedsubjects.ThisregioncontainsasinglegenethatencodesamemberoftheTAS2Rbittertastereceptorfamily.WeidentifiedthreecodingSNPsgivingrisetofivehaplotypesinthisgeneworldwide.ThesehaplotypescompletelyexplainthebimodaldistributionofPTCtastesensitivity,thusaccountingfortheinheritanceoftheclassicallydefinedtasteinsensitivityandfor55to85%ofthevarianceinPTCsensitivity.Distinctphenotypeswereassociatedwithspecifichaplotypes,whichdemonstratesthatthisgenehasadirectinfluenceonPTCtastesensitivityandthatsequencevariantsatdifferentsitesinteractwitheachotherwithintheencodedgeneproduct.在7q染色体上，三个单核苷酸等位多态性01AVI(无偿味能力）AAVPAV(有偿味能力）02ThisregioncontainsasinglegenethatencodesamemberoftheTAS2Rbittertastereceptorfamily.03PTC尝味能力的调查在研究人类群体遗传学、种族学方面有其科学价值;亦可作为双生子、亲子鉴定的简便易行的方法之一。01PTC测定在医学领域尤让人感兴趣的是可用于研究某些疾病与尝味能力的关联,为疾病预防提供资料。02例如结节性甲状腺肿、先天愚型等患者中味盲者较多,而食管癌、胃癌等患者中味盲者较少。若能应用该技术进行深入研究,可能会有新的发现。将ＰＴＣ配制成各种浓度的溶液，由低浓度到高浓度逐步测