Simultaneous detection of several single nucleotide polymorphisms

2003 
Accurate and fast genotyping of single nucleotide polymorphisms (snps) is of significant scientific importance in human genome project. here a new automated fluorescent method that can rapidly and accurately genotype multiplex known snps was developed, which was achieved by substantially improving a commercially available protocol. by this method, mismatch repair gene hmlh1 and cancer repression gene p53 were investigated, eight known snp spots (including five hot spots) of 20 coloeretal cancer patients' hmlh1 and p53 gene were detected, and a heterozygosity mutation (gtt-->gat) at codon 384 of hmlh1 was found. sequencing result of hmlh1 proves the reliability of this new method.
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