Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2

Carolyn Y. Ho, Brith Otterud, Robert D. Legare, Tena Varvil, Richa Saxena, David B. DeHart, Susan E. Kohler, Jon C. Aster, S. Bruce Dowton, Frederick P. Li, Mark Leppert, D. Gary Gilliland*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

92 Citations (Scopus)

Abstract

Linkage analysis was performed on a large pedigree with an autosomal dominant platelet disorder and a striking propensity in affected family members to develop hematologic malignancy, predominantly acute myelogenous leukemia. We report the linkage of the autosomal dominant platelet disorder to markers on chromosome 21q22. Four genetic markers completely cosegregate with the trait and yield maximum logarithm of difference scores ranging from 4.9 to 10.5 (θ = .001). Two flanking markers, D21S1265 and D21S167, define a critical region for the disease locus of 15.2 centimorgan. Further analysis of this locus may identify a gene product that affects platelet production and function and contributes to the molecular evolution of hematologic malignancy.

Original languageEnglish
Pages (from-to)5218-5224
Number of pages7
JournalBlood
Volume87
Issue number12
Publication statusPublished - 15 Jun 1996
Externally publishedYes

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