Linkage of Niemann-Pick disease type C to human chromosome 18.
basic_science · Level V
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- Record sourced from PubMed, PMID 8446622.
- Also identified by PMC identifier 46008.
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Abstract
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.
Medical subject headings
- Chromosomes, Human, Pair 18
- Niemann-Pick Diseases