COMPLEMENTATION STUDIES IN NIEMANN-PICK DISEASE TYPE-C INDICATE THE EXISTENCE OF A 2ND GROUP

被引：96

作者：

STEINBERG, SJ ^{[1
]}

WARD, CP ^{[1
]}

FENSOM, AH ^{[1
]}

机构：

[1] UNITED MED & DENT SCH GUYS & ST THOMAS HOSP,DIV MED & MOLEC GENET,PAEDIAT RES UNIT,LONDON SE1 9RT,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 04期

基金：

英国惠康基金;

关键词：

D O I：

10.1136/jmg.31.4.317

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Niemann-Pick disease type C is a clinically heterogeneous storage disorder with an unknown primary metabolic defect. We have undertaken somatic cell hybridisation experiments using skin fibroblast strains from 12 patients representing a wide clinical spectrum. Preliminary experiments using filipin staining of free cholesterol as a marker for complementation indicated the existence of one major group (group alpha) and one minor group (group beta) represented by one mutant strain. Subsequent experiments in which sphingomyelinase activity was measured as a marker for complementation using five mutant strains showing activity consistently <40% control levels confirmed the existence of the second group.

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页码：317 / 320

页数：4

相关论文

共 15 条

[1] SOMATIC-CELL HYBRIDIZATION STUDIES SHOWING DIFFERENT GENE-MUTATIONS IN NIEMANN-PICK VARIANTS [J].

BESLEY, GTN ;

HOOGEBOOM, AJM ;

HOOGEVEEN, A ;

KLEIJER, WJ ;

GALJAARD, H .

HUMAN GENETICS, 1980, 54 (03) :409-412

[2] LINKAGE OF NIEMANN-PICK DISEASE TYPE-C TO HUMAN CHROMOSOME-18 [J].

CARSTEA, ED ;

POLYMEROPOULOS, MH ;

PARKER, CC ;

DETERAWADLEIGH, SD ;

ONEILL, RR ;

PATTERSON, MC ;

GOLDIN, E ;

XIAO, H ;

STRAUB, RE ;

VANIER, MT ;

BRADY, RO ;

PENTCHEV, PG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (05) :2002-2004

[3]

FENSOM A, 1979, J INHERITED METABOLI, V2, P9

[4]

FENSOM AH, 1990, EMIRATES MED J, V6, P215

[5] NIEMANN-PICK DISEASE - A FREQUENT MISSENSE MUTATION IN THE ACID SPHINGOMYELINASE GENE OF ASHKENAZI JEWISH TYPE-A AND TYPE-B PATIENTS [J].

LEVRAN, O ;

DESNICK, RJ ;

SCHUCHMAN, EH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (09) :3748-3752

[6]

LOWRY OH, 1951, J BIOL CHEM, V193, P265

[7]

MACONOCHIE IK, 1989, ARCH DIS CHILD, V64, P1392

[8] A DEFECT IN CHOLESTEROL ESTERIFICATION IN NIEMANN-PICK DISEASE (TYPE-C) PATIENTS [J].

PENTCHEV, PG ;

COMLY, ME ;

KRUTH, HS ;

VANIER, MT ;

WENGER, DA ;

PATEL, S ;

BRADY, RO .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (23) :8247-8251

[9] ISOLATION OF CDNA CLONES ENCODING HUMAN ACID SPHINGOMYELINASE - OCCURRENCE OF ALTERNATIVELY PROCESSED TRANSCRIPTS [J].

QUINTERN, LE ;

SCHUCHMAN, EH ;

LEVRAN, O ;

SUCHI, M ;

FERLINZ, K ;

REINKE, H ;

SANDHOFF, K ;

DESNICK, RJ .

EMBO JOURNAL, 1989, 8 (09) :2469-2473

[10] GENETIC AND PHENOTYPIC HETEROGENEITY IN DISORDERS OF PEROXISOME BIOGENESIS - A COMPLEMENTATION STUDY INVOLVING CELL-LINES FROM 19 PATIENTS [J].

ROSCHER, AA ;

HOEFLER, S ;

HOEFLER, G ;

PASCHKE, E ;

PALTAUF, F ;

MOSER, A ;

MOSER, H .

PEDIATRIC RESEARCH, 1989, 26 (01) :67-72