POPULATION GENETICS OF HUMAN HYPERVARIABLE LOCI

描述（改编自研究者摘要）：这是一份提案 研究11个基因组中110个高变基因座的特性， 定义的人口。 研究的总体目标是 提高我们对高变基因座生物学的理解。 非转录区、转录区和翻译区的高变基因座 将进行比较，以检验假设，因为自然选择， 在编码区域中减少了群体内方差。 等位基因变异 将在致病三核苷酸系统中与 三核苷酸系统不会引起疾病。 它是假设 前者的突变率将高于后者。 措施 将评估种群间遗传方差， 自然选择的可能影响（特别是平衡与 定向或分裂性选择）。 将测量突变率， 比较每类高变基因座（di-，tri-， 四核苷酸），使用家族数据。 这些位点的频率分布 将进行检查，以确定是否存在功能限制， 等位基因大小

DESCRIPTION (Adapted from the Investigator's Abstract): This is a proposal to investigate the properties of a series of 110 hypervariable loci in 11 defined human populations. The overall objective of the research is to improve our understanding of the biology of hypervariable loci. Hypervariable loci in non-transcribed, transcribed and translated regions will be compared to test the hypothesis that, because of natural selection, intrapopulation variance is reduced in coding regions. Variation in allele sizes will be compared in disease-causing trinucleotide systems versus trinucleotide systems that do not cause disease. It is hypothesized that the former will have higher mutation rates than the latter. Measures of interpopulation genetic variance will be evaluated to search for the possible effects of natural selection (in particular, balancing vs. directional or disruptive selection). Mutation rates will be measured and compared for each class of hypervariable loci (di-, tri-, and tetranucleotides), using family data. Frequency distributions of these loci will be examined to determine whether there are functional constraints on allele size.