GENETIC-MAPPING OF THE BATTEN-DISEASE LOCUS (CLN3) TO THE INTERVAL D165288-D165383 BY ANALYSIS OF HAPLOTYPES AND ALLELIC ASSOCIATION

被引：31

作者：

MITCHISON, HM

TASCHNER, PEM

ORAWE, AM

DEVOS, N

PHILLIPS, HA

THOMPSON, AD

KOZMAN, HM

HAINES, JL

SCHLUMPF, K

DARIGO, K

BOUSTANY, RMN

CALLEN, DF

BREUNING, MH

GARDINER, RM

MOLE, SE

LERNER, TJ

机构：

[1] LEIDEN STATE UNIV,DEPT HUMAN GENET,SYLVIUS LAB,2333 AL LEIDEN,NETHERLANDS

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

[3] MASSACHUSETTS GEN HOSP E,MOLEC NEUROGENET UNIT,BOSTON,MA 02129

[4] HARVARD UNIV,SCH MED,DEPT NEUROL,BOSTON,MA 02114

[5] DUKE UNIV,MED CTR,DIV PEDIAT NEUROL,DURHAM,NC 27710

来源：

GENOMICS | 1994年 / 22卷 / 02期

基金：

英国惠康基金;

关键词：

D O I：

10.1006/geno.1994.1412

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：

CLN3, the gene for juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten disease, has been localized by genetic linkage analysis to chromosome 169 between loci D165297 and D16S57. We have now further refined the localization of CLN3 by haplotype analysis using two new microsatellite markers from loci D16S383 and SPN in the D16S297-D16S57 interval on a larger collaborative family resource consisting of 142 JNCL pedigrees. Crossover events in 3 maternal meioses define new flanking markers for CLN3 and localize the gene to the interval at 16p12.1-p11.2 between D16S288 and D16S383, which corresponds to a genetic distance of 2.1 cM. Within this interval 4 microsatellite loci are in strong linkage disequilibrium with CLN3, and extended haplotype analysis of the associated alleles indicates that CLN3 is in closest proximity to loci D16S299 and D16S298. (C) 1994 Academic Press, Inc.

引用

页码：465 / 468

页数：4

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