Using Allele-Specific PCR with Molecular Beams as a Means for Genotyping the Diallelic Indels

Doktycz, M.J. ; Weber, J.L. (Marshfield Medical Research Foundation)

Oak Ridge National Laboratory

关键词: Dna;    Genetics;    Porous Materials;    Glass;    Molecular Beams;   

DOI  :  10.2172/940386
RP-ID  :  ORNL98-0537
RP-ID  :  DE-AC05-00OR22725
RP-ID  :  940386

美国|英语

来源: UNT Digital Library

【 摘 要 】

The first Specific Aim for this grant was to identify and characterize an average of 500 human insertion/deletion polymorphisms per grant year (1500 total). This task was carried out entirely at MMRF. They substantially exceeded this goal by confirming about 2,300 diallelic indels. Complete characterization information for these polymorphisms is available from the Marshfield web site. A manuscript describing results for the first 2,000 diallelic indels was published earlier this year in the American Journal of Human Genetics. The Second Specific Aim of the grant was to investigate and develop improved methods for analysis of diallelic polymorphisms using miniaturized DNA arrays. The initial genotyping technology efforts focused on various hybridization and extension protocols with oligo arrays on flow-through channel glass. Channel glass is a porous material that permits reagents to be passed through the arrays. They devoted roughly 19 months at the beginning of the grant in pursuit of this methodology, but for various technological reasons, progress was limited.