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

Eugene D. Carstea, Mihael H. Polymeropoulos, Colette C. Parker, Sevilla D. Detera-Wadleigh, Raymond R. O'Neill, Marc C. Patterson, Ehud Goldin, Hong Xiao, Richard E. Straub, Marie T. Vanier, Roscoe O. Brady, Peter G. Pentchev

Research output: Contribution to journalArticlepeer-review

102 Scopus citations


We analyzed the involvement of chromosome 18 in Nietnann-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.

Original languageEnglish (US)
Pages (from-to)2002-2004
Number of pages3
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number5
StatePublished - Mar 1 1993

ASJC Scopus subject areas

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