Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2000-7-27
pubmed:abstractText
A combination of haplotype analysis and direct sequencing were conducted on Japanese Muir-Torre syndrome kindred. In the kindred, two females revealed a hereditary non-polyposis colon cancer (HNPCC) phenotype and one male had a sebaceous tumor in addition to a HNPCC phenotype. Haplotype analysis and direct sequencing failed to show involvement of the known mismatch repair genes, with the exception of MSH5, in this kindred. Analysis of large fragments (from 3.9 to 6. 2 kb) covering the entire 25 kb MSH5 gene in the proband revealed the absence of gross changes in the promoter region and exons. The direct sequencing of the promoter region and all 25 exons failed to demonstrate any mutations in the coding regions except for a CA repeat polymorphism in intron 3 and a C/A polymorphism in intron 15. Taken together present results indicate that a novel and yet unknown mismatch repair gene is likely involved in the HNPCC in this kindred.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0923-1811
pubmed:author
pubmed:issnType
Print
pubmed:volume
23
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
117-25
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed-meshheading:10808129-Adult, pubmed-meshheading:10808129-Aged, pubmed-meshheading:10808129-Base Pair Mismatch, pubmed-meshheading:10808129-Base Sequence, pubmed-meshheading:10808129-Cell Cycle Proteins, pubmed-meshheading:10808129-Colorectal Neoplasms, Hereditary Nonpolyposis, pubmed-meshheading:10808129-DNA Repair, pubmed-meshheading:10808129-Exons, pubmed-meshheading:10808129-Female, pubmed-meshheading:10808129-Germ-Line Mutation, pubmed-meshheading:10808129-Humans, pubmed-meshheading:10808129-Japan, pubmed-meshheading:10808129-Male, pubmed-meshheading:10808129-Middle Aged, pubmed-meshheading:10808129-Pedigree, pubmed-meshheading:10808129-Phenotype, pubmed-meshheading:10808129-Polymorphism, Genetic, pubmed-meshheading:10808129-Promoter Regions, Genetic, pubmed-meshheading:10808129-Proteins
pubmed:year
2000
pubmed:articleTitle
Probable involvement of a germ-line mutation of an unknown mismatch repair gene in a Japanese Muir-Torre syndrome phenotype.
pubmed:affiliation
Department of Dermatology, Akita University School of Medicine, Akita, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't