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 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.
Carstea
E D
ED
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.
Polymeropoulos
M H
MH
Parker
C C
CC
Detera-Wadleigh
S D
SD
O'Neill
R R
RR
Patterson
M C
MC
Goldin
E
E
Xiao
H
H
Straub
R E
RE
Vanier
M T
MT
D002887:Chromosomes, Human, Pair 18; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D009542:Niemann-Pick Diseases / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
D005819:Genetic Markers