Multiplex SNaPshot Genotyping for Detecting Loss of Heterozygosity in the Mismatch-Repair Genes MLH1 and MSH2 in Microsatellite-Unstable Tumors | Zendy

Maria Gerykova Bujalkova | Zendy; Katarína Závodná | Zendy; Tomas Krivulcik | Zendy; Denisa Ilenčíková | Zendy; Brigitte Wolf | Zendy; Michal Kováč | Zendy; Judith KarnerHanusch | Zendy; Karl Heinimann | Zendy; Giancarlo Marra | Zendy; Josef Jiricny | Zendy; Zdena Bartošová | Zendy

Open Access

Multiplex SNaPshot Genotyping for Detecting Loss of Heterozygosity in the Mismatch-Repair Genes MLH1 and MSH2 in Microsatellite-Unstable Tumors

Author(s) -

Maria Gerykova Bujalkova,

Katarína Závodná,

Tomas Krivulcik,

Denisa Ilenčíková,

Brigitte Wolf,

Michal Kováč,

Judith KarnerHanusch,

Karl Heinimann,

Giancarlo Marra,

Josef Jiricny,

Zdena Bartošová

Publication year - 2008

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2008.108902

Subject(s) - msh2 , mlh1 , loss of heterozygosity , dna mismatch repair , genotyping , biology , microsatellite , microsatellite instability , lynch syndrome , multiplex , germline mutation , molecular inversion probe , genetics , single nucleotide polymorphism , microbiology and biotechnology , colorectal cancer , genotype , mutation , allele , gene , cancer

In the workup of patients with suspected hereditary nonpolyposis colorectal cancer (HNPCC), detection of loss of heterozygosity (LOH) could help pinpoint the mismatch-repair (MMR) gene carrying the germline mutation, but analysis of microsatellite markers has proved unreliable for this purpose. We developed a simple, low-cost method based on single-nucleotide polymorphism (SNP) genotyping and capillary electrophoresis for the assessment of LOH at 2 MMR loci simultaneously.

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