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Curr Protoc Hum Genet ; Chapter 3: Unit 3.6, 2007 Oct.
Article in English | MEDLINE | ID: mdl-18428411

ABSTRACT

Conversion Technology (CT) is a streamlined version of somatic cell hybrid preparation that was developed to be amenable for use as a mutation detection method and as a diagnostic tool for individual patients. It is also a powerful research tool. There are two broad categories of potential applications for CT: research applications in gene mapping and identification, and clinical applications in the detection of disease-causing mutations in individual patients. CT may emerge as the gold standard for both mutation detection and haplotyping. It will likely prove valuable in mutation detection due to its ability to detect mutations that are not amenable to detection by sequencing (e.g., deep intron or promoter mutations). It will likely prove valuable in gene identification projects because genotyping of haploid chromosomes yields unequivocal haplotypes.


Subject(s)
Chromosomes, Mammalian/genetics , Hybrid Cells , Animals , DNA Mutational Analysis , Humans
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