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

Journal Article · Sun Oct 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:236343

Wildenberg, S C; Oetting, W S; King, R A ^[1]

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1. Univ. of Minnesota, Minneapolis, MN (United States); and others

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. 41 refs., 3 figs., 4 tabs.

• OSTI ID: 236343
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 57; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
BIOLOGICAL MODELS
BLOOD PLATELETS
DNA
GENES
GENETIC MAPPING
HEMIC DISEASES
HEREDITARY DISEASES
HUMAN CHROMOSOMES
MICE
PATIENTS
PHENOTYPE
PIGMENTS
PUERTO RICO
RECESSIVE MUTATIONS
SCREENING
SKIN DISEASES
STATISTICS