Abstract:
:Physical maps of the human genome are being constructed by many groups using a mapping strategy that relies on the development of sequence-tagged sites (STSs). Thousands of physically mapped STSs, representing hundreds of kilobases (kb) of unique human DNA sequence, have been generated by these efforts. Since sequence variations are found every 1-2 kb in the genome, it is possible to extract additional information from mapped STSs by scanning them for variations. By screening 154 of the STSs published by the Whitehead Institute/MIT Genome Center, we have identified 47 new DNA sequence polymorphisms among the 37.2 kb of unique DNA sequence contained in these STSs. Using a sequence-based approach to estimate allele frequencies for these variations, 29 of the substitution polymorphisms (1 in 1.3 kb) were found to have heterozygosities exceeding 32%. Our study shows that the information content of STS-based genome maps can be increased with minimal additional effort by scanning for DNA polymorphisms, and that ambiguities and errors in the initial STS sequence can be resolved and corrected in the process.
journal_name
Genomicsjournal_title
Genomicsauthors
Kwok PY,Deng Q,Zakeri H,Taylor SL,Nickerson DAdoi
10.1006/geno.1996.0019subject
Has Abstractpub_date
1996-01-01 00:00:00pages
123-6issue
1eissn
0888-7543issn
1089-8646pii
S0888-7543(96)90019-1journal_volume
31pub_type
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