FINE GENETIC-MAPPING OF THE BATTEN DISEASE LOCUS (CLN3) BY HAPLOTYPE ANALYSIS AND DEMONSTRATION OF ALLELIC ASSOCIATION WITH CHROMOSOME-16P MICROSATELLITE LOCI

被引：46

作者：

MITCHISON, HM

THOMPSON, AD

MULLEY, JC

KOZMAN, HM

RICHARDS, RI

CALLEN, DF

STALLINGS, RL

DOGGETT, NA

ATTWOOD, J

MCKAY, TR

SUTHERLAND, GR

GARDINER, RM

机构：

[1] WOMEN & CHILDRENS HOSP,DEPT CYTOGENET & MOLEC GENET,CTR MED GENET,ADELAIDE,SA 5006,AUSTRALIA

[2] MRC,GALTON LAB,HUMAN BIOCHEM GENET UNIT,LONDON NW1 2HE,ENGLAND

[3] LOS ALAMOS NATL LAB,DIV LIFE SCI,LOS ALAMOS,NM 87544

[4] LOS ALAMOS NATL LAB,CTR HUMAN GENOME STUDIES,LOS ALAMOS,NM 87544

来源：

GENOMICS | 1993年 / 16卷 / 02期

关键词：

D O I：

10.1006/geno.1993.1210

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Batten disease, juvenile onset neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder characterized by accumulation of auto fluorescent lipopigment in neurons and other cell types. The disease locus (CLN3) has previously been assigned to chromosome 16p. The genetic localization of CLN3 has been refined by analyzing 70 families using a high-resolution map of 15 marker loci encompassing the CLN3 region on 16p. Crossovers in three maternal meioses allowed localization of CLN3 to the interval between D16S297 and D16S57. Within that interval alleles at three highly polymorphic dinucleotide repeat loci (D16S288, D16S298, D16S299) were found to be in strong linkage disequilibrium with CLN3. Analysis of haplotypes suggests that a majority of CLN3 chromosomes have arisen from a single founder mutation. © 1993 Academic Press, Inc.

引用

页码：455 / 460

页数：6

共 15 条

[1] HIGH-RESOLUTION CYTOGENETIC-BASED PHYSICAL MAP OF HUMAN CHROMOSOME-16 [J].

CALLEN, DF ;

DOGGETT, NA ;

STALLINGS, RL ;

CHEN, LZ ;

WHITMORE, SA ;

LANE, SA ;

NANCARROW, JK ;

APOSTOLOU, S ;

THOMPSON, AD ;

LAPSYS, NM ;

EYRE, HJ ;

BAKER, EG ;

SHEN, Y ;

HOLMAN, K ;

PHILLIPS, H ;

RICHARDS, RI ;

SUTHERLAND, GR .

GENOMICS, 1992, 13 (04) :1178-1185

[2]

CALLEN DF, 1991, AM J HUM GENET, V49, P1372

[3] PROGRAM DESCRIPTION - CENTER-DETUDE-DU-POLYMORPHISME-HUMAIN (CEPH) - COLLABORATIVE GENETIC-MAPPING OF THE HUMAN GENOME [J].

DAUSSET, J ;

CANN, H ;

COHEN, D ;

LATHROP, M ;

LALOUEL, JM ;

WHITE, R .

GENOMICS, 1990, 6 (03) :575-577

[4]

EIBERG H, 1989, CLIN GENET, V36, P217

[5] BATTEN DISEASE (SPIELMEYER-VOGT DISEASE, JUVENILE ONSET NEURONAL CEROID-LIPOFUSCINOSIS) GENE (CLN3) MAPS TO HUMAN CHROMOSOME-16 [J].

GARDINER, M ;

SANDFORD, A ;

DEADMAN, M ;

POULTON, J ;

COOKSON, W ;

REEDERS, S ;

JOKIAHO, I ;

PELTONEN, L ;

EIBERG, H ;

JULIER, C .

GENOMICS, 1990, 8 (02) :387-390

[6] GUIDELINES FOR HUMAN LINKAGE MAPS - AN INTERNATIONAL SYSTEM FOR HUMAN LINKAGE MAPS (ISLM, 1990) [J].

KEATS, BJB ;

SHERMAN, SL ;

MORTON, NE ;

ROBSON, EB ;

BUETOW, KH ;

CARTWRIGHT, PE ;

CHAKRAVARTI, A ;

FRANCKE, U ;

GREEN, PP ;

OTT, J .

GENOMICS, 1991, 9 (03) :557-560

[7] GENETIC-LINKAGE MAP OF 46 DNA MARKERS ON HUMAN CHROMOSOME-16 [J].

KEITH, TP ;

GREEN, P ;

REEDERS, ST ;

BROWN, VA ;

PHIPPS, P ;

BRICKER, A ;

FALLS, K ;

REDIKER, KS ;

POWERS, JA ;

HOGAN, C ;

NELSON, C ;

KNOWLTON, R ;

DONISKELLER, H .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (15) :5754-5758

[8] DINUCLEOTIDE REPEAT POLYMORPHISM (D16S285) ON HUMAN CHROMOSOME-16 [J].

KONRADI, C ;

OZELIUS, L ;

YAN, W ;

GUSELLA, JF ;

BREAKEFIELD, XO .

NUCLEIC ACIDS RESEARCH, 1991, 19 (19) :5449-5449

[9] CONSTRUCTION OF MULTILOCUS GENETIC-LINKAGE MAPS IN HUMANS [J].

LANDER, ES ;

GREEN, P .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (08) :2363-2367

[10]

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

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