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. 1993 Mar 1;90(5):2002-4.
doi: 10.1073/pnas.90.5.2002.

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

E D Carstea  1 , M H Polymeropoulos, C C Parker, S D Detera-Wadleigh, R R O'Neill, M C Patterson, E Goldin, H Xiao, R E Straub, M T Vanier, et al.
Affiliations

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

E D Carstea et al. Proc Natl Acad Sci U S A. .

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.

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