TY - JOUR
T1 - Survey of trinucleotide repeats in the human genome
T2 - Assessment of their utility as genetic markers
AU - Gastier, Julie M.
AU - Pulido, Jacqueline C.
AU - Sunden, Sara
AU - Brody, Thomas
AU - Buetow, Kenneth H.
AU - Murray, Jeffrey C.
AU - Weber, James L.
AU - Hudson, Thomas J.
AU - Sheffield, Val C.
AU - Duyk, Geoffrey M.
N1 - Funding Information:
We are grateful to David Kwiatkowski, Richard Baldarelli, and George M.Church for critical reading of the manuscripL We thank the following for their invaluable technical assistance: Jelveh Ghazizadeh (Harvard Medical School), Gretel Mattes, John Beck, Brain Thompson, Tom Businga, Kerry Wiles, Dee Even (University of Iowa), Matt Stephenson, Donna David (Marshfield Clinic), Robert K.Stodola, Frank J.Manion, Raymond Reichard, Michel van der List and John Quillen (Fox Chase Cancer Research Center). This work was supported in part by NW grant P5oHG00835.
PY - 1995/10
Y1 - 1995/10
N2 - 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 trinucieotide repeat classes to determine their relative abundance, repeat size distribution, and general utility as genetic markers. Trinucieotide repeats, depending on the repeat class, are one to two orders of magnitude less frequent than (AC)n repeats. The average size of trinucleotlde 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.
AB - 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 trinucieotide repeat classes to determine their relative abundance, repeat size distribution, and general utility as genetic markers. Trinucieotide repeats, depending on the repeat class, are one to two orders of magnitude less frequent than (AC)n repeats. The average size of trinucleotlde 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.
UR - http://www.scopus.com/inward/record.url?scp=0028885533&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028885533&partnerID=8YFLogxK
U2 - 10.1093/hmg/4.10.1829
DO - 10.1093/hmg/4.10.1829
M3 - Article
C2 - 8595403
AN - SCOPUS:0028885533
SN - 0964-6906
VL - 4
SP - 1829
EP - 1836
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 10
ER -