LINKAGE OF NIEMANN-PICK DISEASE TYPE-C TO HUMAN CHROMOSOME-18

被引：105

作者：

CARSTEA, ED

POLYMEROPOULOS, MH

PARKER, CC

DETERAWADLEIGH, SD

ONEILL, RR

PATTERSON, MC

GOLDIN, E

XIAO, H

STRAUB, RE

VANIER, MT

BRADY, RO

PENTCHEV, PG

机构：

[1] ST ELIZABETH HOSP,CTR NEUROSCI,NIMH,BIOCHEM GENET LAB,WASHINGTON,DC 20032

[2] COLUMBIA UNIV,DEPT PSYCHIAT & GENET & DEV,NEW YORK,NY 10032

[3] NIMH,CLIN NEUROGENET BRANCH,BETHESDA,MD 20892

[4] LYONS SUD SCH MED,DEPT BIOCHEM,F-69921 OULLINS,FRANCE

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1993年 / 90卷 / 05期

关键词：

D O I：

10.1073/pnas.90.5.2002

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected off-spring, 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.

引用

页码：2002 / 2004

页数：3

共 26 条

[1] TYPE-C NIEMANN-PICK DISEASE - DOCUMENTATION OF ABNORMAL LDL PROCESSING IN LYMPHOCYTES [J].

ARGOFF, CE ;

KANESKI, CR ;

BLANCHETTEMACKIE, EJ ;

COMLY, M ;

DWYER, NK ;

BROWN, A ;

BRADY, RO ;

PENTCHEV, PG .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 171 (01) :38-45

[2] TYPE-C NIEMANN-PICK DISEASE - LOW-DENSITY LIPOPROTEIN UPTAKE IS ASSOCIATED WITH PREMATURE CHOLESTEROL ACCUMULATION IN THE GOLGI-COMPLEX AND EXCESSIVE CHOLESTEROL STORAGE IN LYSOSOMES [J].

BLANCHETTEMACKIE, EJ ;

DWYER, NK ;

AMENDE, LM ;

KRUTH, HS ;

BUTLER, JD ;

SOKOL, J ;

COMLY, ME ;

VANIER, MT ;

AUGUST, JT ;

BRADY, RO ;

PENTCHEV, PG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (21) :8022-8026

[3] NIEMANN-PICK DISEASE TYPE-C AND TYPE-D [J].

BRADY, RO ;

FILLINGKATZ, MR ;

BARTON, NW ;

PENTCHEV, PG .

NEUROLOGIC CLINICS, 1989, 7 (01) :75-88

[4] A RECEPTOR-MEDIATED PATHWAY FOR CHOLESTEROL HOMEOSTASIS [J].

BROWN, MS ;

GOLDSTEIN, JL .

SCIENCE, 1986, 232 (4746) :34-47

[5]

CECI JD, 1992, GENOMICS, V13, P1281

[6] CLINICAL SPECTRUM OF NIEMANN-PICK DISEASE TYPE-C [J].

FINK, JK ;

FILLINGKATZ, MR ;

SOKOL, J ;

COGAN, DG ;

PIKUS, A ;

SONIES, B ;

SOONG, B ;

PENTCHEV, PG ;

COMLY, ME ;

BRADY, RO ;

BARTON, NW .

NEUROLOGY, 1989, 39 (08) :1040-1049

[7]

KRUTH HS, 1986, J BIOL CHEM, V261, P6769

[8]

KURIMASA A, 1991, AM J HUM GENET, V49, P166

[9]

LATHROP GM, 1985, AM J HUM GENET, V37, P482

[10] THE INTRACELLULAR-TRANSPORT OF LOW-DENSITY LIPOPROTEIN DERIVED CHOLESTEROL IS DEFECTIVE IN NIEMANN-PICK TYPE-C FIBROBLASTS [J].

LISCUM, L ;

RUGGIERO, RM ;

FAUST, JR .

JOURNAL OF CELL BIOLOGY, 1989, 108 (05) :1625-1636

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