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SSCP HELP

Paul N Hengen pnh at fcsparc6.ncifcrf.gov
Thu Aug 26 16:02:21 EST 1993


In article <1993Aug26.192905.21067 at midway.uchicago.edu>
 ecec at midway.uchicago.edu writes:

> The most exhaustive analysis of SSCP conditions that I know of
> has been  performed by M. Dean in Steve O'Brien's lab 
> at NCI, Frederik Maryland.  I don't happen to have the
> paper at hand, nor do I know the address. Looks like a job
> for Gopher. Email me if you can't get anywhere, and I'll
> dig up the references.
>
> Eric.

TITLE [TI]
    Detecting high-resolution polymorphisms in human coding loci by
    combining PCR and single-strand conformation polymorphism (SSCP)
    analysis.

AUTHOR [AU]
    Poduslo SE; Dean M; Kolch U; O'Brien SJ

ADDRESS [AD]
    Program Resources, Incorporated/DynCorp, Frederick, MD.

JOURNAL [JL]
    Am J Hum Genet 49: 106-11 (1991)

ABSTRACT [AB]
    A strategy is described that allows the development of polymorphic
    genetic markers to be characterized in individual genes. Segments of the
    3' untranslated regions are amplified, and polymorphisms are detected
    by digestion with frequently cutting enzymes and with the detection of
    single-stranded conformation polymorphisms. This allows these genes, or
    DNA segments, to be placed on the linkage maps of human chromosomes.
    Polymorphisms in two genes have been identified using this approach. A
    HaeIII polymorphism was detected in the KIT proto-oncogene, physically
    assigned to chromosome 4q11-12. This polymorphism is linked to other
    chromosome 4p markers and is in linkage disequilibrium with a HindIII
    polymorphism previously described at this locus. We have also identified
    in the insulin-like growth factor1 receptor gene (IGF1R) a 2-bp
    deletion that is present at a frequency of .25 in the Caucasian
    population. Pedigree analysis with this insertion/deletion polymorphism
    placed the IGF1R gene at the end of the current linkage map of
    chromosome 15q, consistent with the physical assignment of 15q2526.
    Thus, polymorphisms in specific genes can be used to related the
    physical, genetic, and comparative maps of mammalian genomes and to
    simplify the testing of candidate genes for human diseases.

*Note: Mike Dean can be reached at 301-846-5931, FAX 301-846-1686

Paul N. Hengen
National Cancer Institute
Frederick Cancer Research and Development Center
Frederick, Maryland 21702-1201 USA



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