An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium.

ABSTRACT: Whole-genome association studies will be a powerful tool to identify genes responsible for common human diseases. A crucial task for association-mapping studies is the evaluation of the relationship between linkage disequilibrium (LD) and physical distance for the genomic region under study. Since it is known that the extent of LD is nonuniformly distributed throughout the human genome, the required marker density has to be determined specifically for the region under study. These regions may be related to isochores and chromosomal bands, as indicated by earlier cytogenetic findings concerning chiasma distribution in meiosis. Therefore we analyzed the neurofibromatosis type 1 (NF1) gene region on chromosome 17q11.2, which is characterized by a nonuniform LD pattern and an L1-to-H2 isochore

SUBMITTER: Eisenbarth I 

PROVIDER: S-EPMC1287892 | biostudies-literature | 2000 Oct

REPOSITORIES: biostudies-literature