SURVEY OF TRINUCLEOTIDE REPEATS IN THE HUMAN GENOME - ASSESSMENT OF THEIR UTILITY AS GENETIC-MARKERS
SURVEY OF TRINUCLEOTIDE REPEATS IN THE HUMAN GENOME - ASSESSMENT OF THEIR UTILITY AS GENETIC-MARKERS
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DOI：
10.1093/hmg/4.10.1829
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发表时间：
1995-10-01
影响因子：
3.5
通讯作者：
DUYK, GM
中科院分区：
文献类型：
--
作者：
GASTIER, JM;PULIDO, JC;DUYK, GM
基于短串联重复序列标记位点（STSs） PCR扩增的遗传标记已成为遗传作图的标准。我们已经完成了一项基于直接分离10个三核苷酸重复类的代表性成员的调查，以确定它们的相对丰度，重复大小分布，以及作为遗传标记的一般效用。三核苷酸重复，取决于重复类别，比（AC）(n)重复的频率低一到两个数量级。三核苷酸重复序列的平均长度小于15个重复单位，本研究开发的sts中只有3个重复单位超过25个。（AAT）(n)类重复序列是最丰富的，也是最常见的多态性。其他被观察到经常多态性的三核苷酸重复序列包括（AAC）(n)、（ACT）(n)、（ATC）(n)和（AAG）(n)；然而，这些类的相对丰度低于（AAT）(n)类重复序列的相对丰度。基于这一初步调查，我们开始了（AAT）(n)类重复序列的饱和克隆。在提交本文时，作为合作人类连锁中心（CHLC）的一部分，我们已经开发了超过415个新的高杂合性（AAT）(n)遗传标记（在4个个体中超过2个等位基因）和200个新的低杂合性（AAT）(n) STSs，这些标记来自于这次更大的筛选工作和最初的调查。
Genetic markers based upon PCR amplification of short tandem repeat-containing sequence tagged sites (STSs) have become the standard for genetic mapping. We have completed a survey based on the direct isolation of representative members of each of the 10 trinucleotide repeat classes to determine their relative abundance, repeat size distribution, and general utility as genetic markers. Trinucleotide repeats, depending on the repeat class, are one to two orders of magnitude less frequent than (AC)(n) repeats. The average size of trinucleotide repeats sequenced was less than 15 repeat units in length, and only three of the STSs developed for this study demonstrated more than 25 repeats units. The (AAT)(n) class of repeats are the most abundant and also the most frequently polymorphic. Other classes of trinucleotide repeat classes observed to be frequently polymorphic include (AAC)(n), (ACT)(n), (ATC)(n) and (AAG)(n); however, the relative abundance of these classes is less than that observed for the (AAT)(n) class of repeats. Based upon this initial survey, we have initiated saturation cloning of the (AAT)(n) class of repeats. At the time of submission of this manuscript, we have developed, as part of the Cooperative Human Linkage Center (CHLC), more than 415 new high heterozygosity (AAT)(n) genetic markers (more than two alleles in four individuals) and 200 new low heterozygosity (AAT)(n) STSs from this larger screening effort combined with the initial survey.