Family with Bannayan-Riley-Ruvalcaba Syndrome: Linkage...

Abstract

The purpose of this study was to locate the gene responsible for Bannayan-Riley-Ruvalcaba syndrome in an affected family. DNA was isolated from 13 members of the family and linkage studies were conducted. Twelve markers encompassing a specific region on chromosome 10 (10q23) were used in linkage analysis. DNA segments specific for each primer set were amplified using PCR (polymerase chain reaction) techniques and then analysis of the products was conducted using the ABI genetic analyzer. Alleles were then assigned to each family member and linkage was tested (LINKAGE 5.0). A maximum LOD score of 0.98 was obtained at marker D10S573. This gave an indication of linkage in the family but no definitive conformation was possible. Crossover events in the family were also examined in an attempt to localize the gene responsible for Bannayan-Riley-Ruvalcaba syndrome. All segments on chromosome 10 were ruled out for the BRR gene except the region between markers D10S215 and D10S2470.