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)

Abstract

SummaryMicrosatellite 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.

Genetic diversity of 10 X chromosome STRs in northern Portugal

“…Genetic distances were calculated between northern Portuguese and other European populations with available data for the same markers studied in our sample [3,5,7,16,17,20,26,[29][30][31][32][33][34]. In most comparisons, low non-significant genetic distances were obtained (Table S3).…”

A new Web site compiling forensic chromosome X research is now online

“…Despite the fact that the whole human genome is now sequenced [2], linkage analysis is still important to identify specific disease-linked genes [3]. Furthermore, R. Szibor some oncology ensemble marker panels for the investigation of microsatellite instability (MSI) and loss of heterozygosity (LOH) use ChrX short tandem repeats (STRs) [1,4,8].…”

Allele frequencies of 11 X-chromosomal loci of two population samples from Africa

“…After an intensive analysis of forensically interesting microsatellite repeats of the human X chromosome in European countries [for example [2][3][4][5][6][7][8][9][10][11][12], the interest shifted to African populations in recent years. Data from larger African populations for X-chromosomal STRs have been published for an Ethiopian population [13], in one investigation including an Afro-American population [14], in another study from the same working group comprising populations from Angola, Mozambique, and Uganda [15], as well as the Karinojong from Uganda [16], in a Somali population from Finland [17], and in our recent study on Ghana [18].…”