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PMID: 7573033 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

American journal of human genetics ·Vol. 57 ·No. 4 ·1995-10-00 ·Pages 755-65

Wildenberg SC, Oetting WS, Almodóvar C, Krumwiede M, White JG, King RA

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 theta = .001 was calculated for marker D10S198. Haplotype analysis places the HPS gene in a region of approximately 14 cM that contains the markers D10S198 and D10S1239.

MeSH Terms
Albinism, Oculocutaneous/genetics Base Sequence Chromosome Mapping Chromosomes, Human, Pair 10 DNA/analysis Genetic Linkage Genotype Haplotypes Humans Lod Score Molecular Sequence Data Pedigree Puerto Rico Syndrome
Chemicals
DNA
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Wildenberg S C
Department of Medicine, University of Minnesota, Minneapolis 55455, USA.
Oetting W S
Almodóvar C
Krumwiede M
White J G
King R A
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1995-10-00
Pages
755-65
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1801499
Subset
IM
Grants
PHS HHS · 22167 · United States
Corrections
CommentIn
PMID: 7573031
External Links
PubMed source PMC Full Text View journal details
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