Linkage of Niemann-Pick disease type C to human chromosome 18.

AUTOR(ES)

Carstea, E D

RESUMO

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.

Documentos Relacionados

• Endocardial fibroelastosis and Niemann-Pick disease.
• Localization of Niemann–Pick C1 protein in astrocytes: Implications for neuronal degeneration in Niemann– Pick type C disease
• A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.
• Structure of a cholesterol-binding protein deficient in Niemann–Pick type C2 disease
• Cessation of rapid late endosomal tubulovesicular trafficking in Niemann–Pick type C1 disease