 |
 |
GEO help: Mouse over screen elements for information. |
|
| Status |
Public on Apr 01, 2013 |
| Title |
The MLH1 c.-27C>A and c.85G>T variants are borne on a European ancestral haplotype which underlies an autosomal dominant form of MLH1 epimutation. |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
|
| Summary |
Lynch syndrome, caused by germline heterozygous mutations of the DNA mismatch repair genes MLH1, MSH2, MSH6 and PMS2, or deletions affecting the EPCAM gene upstream of MSH2, is characterized by a predisposition to early-onset colorectal and additional extracolonic cancers. An alternative but rare cause of Lynch syndrome is a constitutional epimutation of MLH1, which is characterized by promoter methylation and transcriptional silencing of a single allele in normal tissues. Worldwide, five families with autosomal dominant transmission of a constitutional MLH1 epimutation linked to an MLH1 haplotype with two single nucleotide variants (c.-27C>A and c.85G>T) have been identified.
Array-based genotyping using Affymetrix SNP 6.0 data in four of these families revealed a shared haplotype extending across a ≤2.6 Mb region of chromosome 3p22 encompassing MLH1 and additional flanking genes, indicating common ancestry.
|
| |
|
| Overall design |
Genomic DNA from 5 carriers of the c.-27C>A and c.85G>T variants was hybridized on Affymetrix SNP6.0 array according to manufacturer's procedures
|
| |
|
| Contributor(s) |
Kwok C, Vogelaar IP, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Rapkins RW, Ward RL, Chun N, Ladabaum U, McKinnon WC, Greenblatt MS, Hitchins MP |
| Citation(s) |
24084575 |
| |
| Submission date |
Mar 13, 2013 |
| Last update date |
Oct 23, 2019 |
| Contact name |
Ingrid Vogelaar |
| E-mail(s) |
I.Vogelaar@gen.umcn.nl
|
| Organization name |
Radboud University Medical Centre
|
| Department |
Human Genetics
|
| Street address |
Geert Grooteplein Zuid 10
|
| City |
Nijmegen |
| ZIP/Postal code |
6525GA |
| Country |
Netherlands |
| |
|
| Platforms (1) |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
|
| Samples (5)
|
|
| Relations |
| BioProject |
PRJNA192973 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE45149_RAW.tar |
213.0 Mb |
(http)(custom) |
TAR (of CEL, CHP) |
| Processed data included within Sample table |
| Processed data provided as supplementary file |
|
|
|
|
 |
Less...
More...