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Correlation Between the Allelic Distribution of STRs in a Finnish Population and Phenotypically Different Gastrointestinal Tumours: A Study Using Four X‐Chromosomal Markers (DXS7423, DXS8377, ARA, DXS101)
Author(s) -
Vauhkonen H.,
Vauhkonen M.,
Sipponen P.,
Sajantila A.
Publication year - 2004
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1046/j.1529-8817.2004.00134.x
Subject(s) - biology , allele , genetics , correlation , phenotype , population , allele frequency , gene , medicine , environmental health , geometry , mathematics
Summary Microsatellite instability in tumours has been suggested as a model to study the process of short tandem repeat (STR) mutations. In the present study we have determined the allelic variation of four X‐STRs (DXS7423, DXS8377, DXS101 and ARA) in a Finnish population of 103 individuals, and assessed whether a comparable allelic distribution could be found in a series of gastrointestinal cancers differing by the level of microsatellite instability. Fifty‐seven gastric and colorectal cancers were stratified by autosomal STRs, and the mononucleotide marker BAT‐26 into stable, low‐level unstable and high‐level unstable microsatellite (MSI‐H) cancers, of which the last produced the majority of X‐STR alleles. For the four markers analysed, a significant correlation of allele distribution between our Finnish population sample and MSI‐H tumours was noted. Together, the eight MSI‐H tumours found represented 80%, 66–80% and 100% of the DXS101 alleles in the Finnish, and in previously described Caucasian and Korean population samples, respectively. Of the ARA, DXS7423 and DXS8377 alleles in the Finnish population, 42%, 75% and 79% were found in the MSI‐H cancers, respectively. The results suggest that analysis of STR variation in a relatively small number of MSI‐H cancers may aid in pre‐evaluation of their allelic distribution in a population.