Linkage of Niemann-Pick Disease Type C to Human Chromosome 18

We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific microsatellite markers. Significant linkage of NPC t...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1993-03, Vol.90 (5), p.2002-2004
Main Authors: Carstea, Eugene D., Polymeropoulos, Michael H., Parker, Colette C., Detera-Wadleigh, Sevilla D., O'Neill, Raymond R., Paterson, Marc C., Goldin, Ehud, Xiao, Hong, Straub, Richard E., Vanier, Marie T., Brady, Roscoe O., Pentchev, Peter G.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Cholesterols
chromosome 18
Chromosomes
Chromosomes, Human, Pair 18
Errors of metabolism
Genes
Genetic Linkage
Genetic loci
Genetic Markers
Genetic mutation
Genomics
Human chromosomes
Humans
linkage analysis
Lipids (lysosomal enzyme disorders, storage diseases)
man
Medical sciences
Metabolic diseases
Mice
Niemann Pick diseases
Niemann-Pick disease
Niemann-Pick Diseases - genetics
Pedigree
Polymerase Chain Reaction
type C
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Summary:We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific microsatellite markers. Significant linkage of NPC to an 18p genomic marker, D18S40, was indicated by a two-point lod score of 3.84. Analysis of meiotic chromosomal breakpoint patterns among the affected individuals indicated that the NPC gene is pericentromerically localized on human chromosome 18.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.90.5.2002