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Linkage of Niemann-Pick Disease Type C to Human Chromosome 18
Eugene D. Carstea, Michael H. Polymeropoulos, Colette C. Parker, Sevilla D. Detera-Wadleigh, Raymond R. O'Neill, Marc C. Paterson, Ehud Goldin, Hong Xiao, Richard E. Straub, Marie T. Vanier, Roscoe O. Brady and Peter G. Pentchev
Proceedings of the National Academy of Sciences of the United States of America
Vol. 90, No. 5 (Mar. 1, 1993), pp. 2002-2004
Published by: National Academy of Sciences
Stable URL: http://www.jstor.org/stable/2361446
Page Count: 3
You can always find the topics here!Topics: Chromosomes, Cholesterols, Genomics, Genes, Human chromosomes, Mice, Genetic loci, Niemann Pick diseases, Genetic mutation, Polymerase chain reaction
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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.
Proceedings of the National Academy of Sciences of the United States of America © 1993 National Academy of Sciences