Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers

作者: Julie M. Gastier , Jacqueline C. Pulido , Sara Sunden , Thomas Brody , Kenneth H. Buetow

DOI: 10.1093/HMG/4.10.1829

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摘要: Genetic markers based upon PCR amplification of short tandem repeat-containing sequence tagged sites (STSs) have become the standard for genetic mapping. We completed a survey on direct isolation representative members each 10 trinucleotide repeat classes to determine their relative abundance, size distribution, and general utility as markers. Trinucleotide repeats, depending class, are one two orders magnitude less frequent than (AC) n repeats. The average repeats sequenced was 15 units in length, only three STSs developed this study demonstrated more 25 units. (AAT) class most abundant also frequently polymorphic. Other observed be polymorphic include (AAC) , (ACT) (ATC) (AAG) ; however, abundance these is that Based initial survey, we initiated saturation cloning At time submission manuscript, developed, part Cooperative Human Linkage Center (CHLC), 415 new high heterozygosity (more alleles four individuals) 200 low from larger screening effort combined with survey.

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