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

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

Neurology

Research output: Contribution to journal › Article › peer-review

102 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	2002-2004
Number of pages	3
Journal	Proceedings of the National Academy of Sciences of the United States of America
Volume	90
Issue number	5
State	Published - Mar 1 1993

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@article{11629833d6504030a18d6c120c6ff564,

title = "Linkage of Niemann-Pick disease type C to human chromosome 18",

abstract = "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.",

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

year = "1993",

month = mar,

day = "1",

language = "English (US)",

volume = "90",

pages = "2002--2004",

journal = "Proceedings of the National Academy of Sciences of the United States of America",

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T1 - Linkage of Niemann-Pick disease type C to human chromosome 18

AU - Carstea, Eugene D.

AU - Polymeropoulos, Mihael H.

AU - Parker, Colette C.

AU - Detera-Wadleigh, Sevilla D.

AU - O'Neill, Raymond R.

AU - Patterson, Marc C.

AU - Goldin, Ehud

AU - Xiao, Hong

AU - Straub, Richard E.

AU - Vanier, Marie T.

AU - Brady, Roscoe O.

AU - Pentchev, Peter G.

PY - 1993/3/1

Y1 - 1993/3/1

N2 - 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.

AB - 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.

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M3 - Article

C2 - 8446622

AN - SCOPUS:0027512555

SN - 0027-8424

VL - 90

SP - 2002

EP - 2004

JO - Proceedings of the National Academy of Sciences of the United States of America

JF - Proceedings of the National Academy of Sciences of the United States of America

IS - 5

ER -

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

Abstract

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