GENETICS OF BITTER TASTE PERCEPTION IN HUMANS

描述(摘自申请者的摘要)：有些人能感觉到它的味道 苯硫脲(PTC)及其化学相关物丙基硫氧嘧啶(PROP) 在低浓度下具有强烈的苦味，而其他人则发现它无法检测到， 即使在浓度高得多的情况下。尽管人类的这一特征一直是 久负盛名，其孟德尔式的传承模式 记录在案的，相应的基因尚不清楚。对100个项目的初步分析 P.I.进行的家庭调查表明，这种基因可能存在于 5号染色体的手臂。因此，P.I.建议进行实验，以 精确定位和鉴定基因。她计划测试两者之间的联系 新收集的100个家系中染色体5p和品尝者状态的研究 (具体目标1)。这将提供一个复制样本来验证初始 地图位置，200个家庭的汇集样本将足够 强大的，以满足基因组标准的显著连锁。在具体目标1中， P.I.建议使用标记对这200个家庭进行密集的基因分型 5p13区域，构建单倍型，并找到它们之间共享的单倍型 品尝者，但不在非品尝者之间共享。5P的链接区域包含26 13mb内的简单序列重复和单核苷酸多态 区域，该区域将用于此密集映射。在具体目标3中，P.I. 将开始对位于该区域内的候选基因进行评估 通过筛选与道具品尝者身份相关的变量来识别。

DESCRIPTION (adapted from applicant's abstract): Some humans perceive the taste of phenylthiocarbamide (PTC) and its chemical relative, propylthiouracil (PROP) as intensely bitter at low concentrations, while others find it undetectable, even at much higher concentrations. Although this human trait has been recognized for a long time, and its Mendelian pattern of inheritance documented, the corresponding gene is unknown. Preliminary analysis of 100 families conducted by the P.I. suggests that the gene may reside on the short arm of chromosome 5. Therefore, the P.I. proposes to conduct experiments to precisely map and identify the gene. She plans to test the linkage between chromosome 5p and taster status in an additional 100 newly collected families (Specific Aim 1). This would provide a replicate sample to verify the initial map location, and the pooled sample of 200 families will be sufficiently powerful to meet the genome-criteria of significant linkage. In Specific Aim 1, the P.I. proposes to densely genotype these 200 families using markers in the 5p13 region, construct haplotypes, and find those haplotypes shared among tasters, but not shared among nontasters. The linked area of 5p contains 26 simple sequence repeats and single nucleotide polymorphisms within a 13MB region, which will be used for this dense mapping. In Specific Aim 3, the P.I. will initiate an evaluation of candidate genes located within the region identified, by screening for variabilities associated with PROP-taster status.