GENETICS OF BITTER TASTE PERCEPTION IN HUMANS

描述（改编自申请人的摘要）：有些人认为味道 苯硫脲（PTC）及其化学相对物丙基硫氧嘧啶（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， 即使在更高的浓度下。尽管这种人类特征 它的孟德尔遗传模式 有文献记载，相应的基因是未知的。初步分析100 私家侦探调查的家庭表明该基因可能存在于 5号染色体的臂。因此，PI。建议进行实验， 精确地绘制并鉴定基因。她计划测试 在另外100个新收集的家系中， （具体目标1）。这将提供一个复制样本，以验证初始 地图位置，200个家庭的合并样本将足以 强有力地满足基因组标准的重要联系。具体目标1、 私家侦探建议密集基因型这200个家庭使用标记在 5 p13区域，构建单倍型，并找到这些单倍型之间共享 尝味者，但非尝味者之间不共享。5 p的链接区域包含26个 13 MB内的简单重复序列和单核苷酸多态性 区域，将用于此密集映射。在《特定目标3》中，P.I. 将开始评估位于该区域内的候选基因 通过筛选与PROP-taster状态相关的变量来识别。

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.