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

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