AI Article Synopsis
- The study used PCR to investigate loss of heterozygosity (LOH) and microsatellite instability (MSI) in patients with myelodysplastic syndrome (MDS), finding MSI in 8% and LOH in 23% of cases.
- Six patients exhibited LOH, mainly at specific genetic markers, and two had chromosomal deletions detected through traditional methods.
- Results indicate a link between LOH, MSI, and chromosomal abnormalities, suggesting that LOH may initiate genetic instability in some MDS patients.
Article Abstract
Using a polymerase chain reaction (PCR)-based approach, we examined the prevalence of loss of heterozygosity (LOH) and microsatellite instability (MSI) in relation to chromosomal imbalances in myelodysplastic syndrome (MDS). Two of 26 patients displayed MSI (8%), one of them at five loci. LOH was detected in six out of 26 cases (23%), predominantly involving markers IRF1 [5q31] and WT1 [11p]. Two patients displayed a corresponding chromosomal deletion by conventional cytogenetics. Supporting the mutator phenotype hypothesis, a significant coincidence of LOH, MSI and chromosome abnormalities was observed (P < 0.025). Moreover, our data suggest that LOH represents an initial rather than a secondary genetic event in MDS, promoting genetic instability in a subset of patients.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1046/j.1365-2141.2000.02088.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!