Microsatellite instability in the peripheral blood leukocytes of HNPCC patients
| Autor: | Brian C. Ramagli, Louis S. Ramagli, Barry W. Brown, Patrick M. Lynch, Mary Coolbaugh-Murphy, Marsha L. Frazier, Jing Ping Xu, Stanley R. Hamilton, Michael J. Siciliano |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Adolescent DNA Mutational Analysis Biology MLH1 Article Germline mutation Leukocytes Genetics medicine Humans Allele neoplasms Genetics (clinical) Aged nutritional and metabolic diseases Microsatellite instability Middle Aged medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis digestive system diseases Lynch syndrome Gene Expression Regulation Neoplastic MSH2 Mutation Microsatellite Female Microsatellite Instability DNA mismatch repair Colorectal Neoplasms Microsatellite Repeats |
| Zdroj: | Human Mutation. 31:317-324 |
| ISSN: | 1098-1004 1059-7794 |
| DOI: | 10.1002/humu.21190 |
| Popis: | Most hereditary nonpolyposis colorectal cancer (HNPCC) patients inherit a defective allele of a mismatch repair (MMR) gene, usually MLH1 or MSH2, resulting in high levels of microsatellite instability (MSI-H) in the tumors. Presence of MSI in the normal tissues of mutation carriers has been controversial. Here we directly compare MSI in the peripheral blood leukocyte (PBL) DNA of seven HNPCC patients carrying different types of pathogenic MMR mutations in MLH1 and MSH2 genes with the PBL DNA of normal age-matched controls and of patients with sporadic colorectal cancer (SCRC). Small pool PCR (SP-PCR) was used studying three microsatellite loci for at least 100 alleles each in most samples. The average frequencies of mutant microsatellite fragments in each HNPCC patient (0.04-0.24) were significantly higher (p |
| Databáze: | OpenAIRE |
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