title: Conversion technology and its role in genetic testing of inherited diseases.
abstract: Identification of germline mutations in a sensitive and specific manner presents a continuing challenge. A major contributing factor to this is that humans are diploid and therefore mutations in one allele are often masked by the normal sequence present on the other copy of the chromosome. Mutation analysis on haploid templates (one copy of a chromosome), rather than on diploid templates (both copies of a chromosome), overcomes this problem and obscured mutations are unmasked. Conversion technology converts a sample from diploid to haploid state by isolating individual alleles in somatic cell hybrids. From each sample, a series of stable hybrids is generated that contains the human chromosome complement in the haploid state. This article describes conversion technology and its applications. The utility of this technique in increasing the sensitivity of genetic testing has been demonstrated for the predisposition to hereditary nonpolyposis colorectal cancer and it is proposed that a similar approach may be applicable to many different diseases.
authors.affiliation: GMP Genetics, Inc, Waltham, MA, USA. nikos@gmpgenetics.com
authors.forename: Nickolas
authors.initials: N
authors.lastname: Papadopoulos
mesh_terms: D000818:Animals; D002875:Chromosomes / Q000235:genetics; D004252:DNA Mutational Analysis; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006238:Haploidy; D006801:Humans; D006822:Hybrid Cells / Q000502:physiology; D051379:Mice; D009154:Mutation; D012680:Sensitivity and Specificity