A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2

S. C. Wildenberg, William S Oetting, C. Almodovar, M. Krumwiede, J. G. White, R. A. King

Research output: Contribution to journalArticlepeer-review

74 Scopus citations

Abstract

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that affects pigment production and platelet function and causes the deposition of a ceroid-like material in various tissues. Variability in the phenotype and the presence of several potential mouse models suggest that HPS may be a heterogeneous disorder. In order to identify a gene responsible for HPS, we collected blood samples from a relatively homogeneous population in Puerto Rico where the HPS carrier frequency is estimated to be 1 in 21. Analysis of pooled DNA samples allowed us to rapidly screen the genome for candidate loci, and significant evidence for linkage was detected for a marker on chromosome 10q. This region of the human genome is conserved syntenically with the region on mouse chromosome 19 where two possible mouse models for HPS, pale ear and ruby eye, are located. This linkage result was verified with additional markers, and a maximum LOD score of 5.07 at θ = .001 was calculated for marker D10S198. Haplotype analysis places the HPS gene in a region of ~14 cM that contains the markers D10S198 and D10S1239.

Original languageEnglish (US)
Pages (from-to)755-765
Number of pages11
JournalAmerican Journal of Human Genetics
Volume57
Issue number4
StatePublished - Jan 1 1995

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