人群中PTC味盲但基因频率的分析.pptVIP

二、实验目的 二、实验原理 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。 SCIENCE VOL 299 21 FEBRUARY 2003 Positional Cloning of the Human Quantitative Trait LocusUnderlying Taste Sensitivity to Phenylthiocarbamide Un-kyung Kim,1 Eric Jorgenson,2 Hilary Coon,3,4 Mark Leppert,3 Neil Risch,2,5 Dennis Drayna1* The ability to taste the substance phenylthiocarbamide (PTC) has been widely used for genetic and anthropological studies, but genetic studies have produced conflicting results and demonstrated complex inheritance for this trait. We have identified a small region on chromosome 7q that shows strong linkage disequilibrium between single-nucleotide polymorphism (SNP) markers and PTC taste sensitivity in unrelated subjects. This region contains a single gene that encodes a member of the TAS2R bitter taste receptor family. We identified three coding SNPs giving rise to five haplotypes in this gene worldwide. These haplotypes completely explain the bimodal distribution of PTC taste sensitivity, thus accounting for the inheritance of the classically defined taste insensitivity and for 55 to 85% of the variance in PTC sensitivity. Distinct phenotypes were associated with specific haplotypes, which demonstrates that this gene has a direct influence on PTC taste sensitivity and that sequence variants at different sites interact with each other within the encoded gene product. 在 7q染色体上，三个单核苷酸等位多态性 AVI (无偿味能力） AAV PAV (有偿味能力） This region contains a single gene that encodes a member of the TAS2R bitter taste receptor family . PTC 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。 PTC 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。 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试学生的尝味能力，由此可区分出味盲（隐性纯合体）、高度敏感（显性纯合体）和介于二者之间的人（杂合体）。据此可对人群中味盲基因的频率进行分析。 味感觉及舌图　 + :苦　O :酸　I :咸　W:甜　　 方法1、配制苯硫脲溶液，对半稀释成14种浓度。 2、每人按浓度由低到高依次尝味，记录自己的基因型。 ①测试时,让受试者正坐,仰头张口伸舌,