Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3)

被引：44

作者：

Németh, AH

Nolte, D

Dunne, E

Niemann, S

Kostrzewa, M

Peters, U

Fraser, E

Bochukova, E

Butler, R

Brown, J

Cox, RD

Levy, ER

Ropers, HH

Monaco, AP

Müller, U

机构：

[1] Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[2] Univ Giessen, Inst Humangenet, D-35392 Giessen, Germany

[3] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

来源：

GENOMICS | 1999年 / 60卷 / 03期

基金：

英国惠康基金;

关键词：

D O I：

10.1006/geno.1999.5929

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：

X-linked dystonia-parkinsonism (XDP) is a recessive disorder characterized by generalized dystonia with some patients exhibiting parkinsonism. The disease gene, DYT3, is located between DXS453 (DXS993) and DXS559, and strongest linkage disequilibrium is found distal to DXS7117 and proximal to DXS559. We have isolated and analyzed four novel polymorphic markers between DXS7117 and DXS559 and, by haplotype analysis, have narrowed the candidate interval to <350 kb, A sequence-ready contig of 700 kb has been constructed spanning DXS7117 to DXS559 and is composed of 35 PACs, BACs, and cosmids. Nine genes and novel ESTs have been mapped into this contig, and mutations in the coding regions and intron-exon borders of two genes have been excluded as the cause of XDP. Several of the other genes and ESTs located within the contig code for proteins implicated in normal brain development and function and are candidates for DYT3. (C) 1999 Academic Press.

引用

页码：320 / 329

页数：10

共 41 条

[21] Genomic structure and expression of murine poly(A) binding protein II gene [J].

Lee, YJ ;

Lee, J ;

Yang, IC ;

Hahn, Y ;

Lee, Y ;

Chung, JH .

BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION, 1998, 1395 (01) :40-46

[22]

Lubas WA, 1997, J BIOL CHEM, V272, P9316

[23] cDNAs with long CAG trinucleotide repeats from human brain [J].

Margolis, RL ;

Abraham, MR ;

Gatchell, SB ;

Li, SH ;

Kidwai, AS ;

Breschel, TS ;

Stine, OC ;

Callahan, C ;

McInnis, MG ;

Ross, CA .

HUMAN GENETICS, 1997, 100 (01) :114-122

[24] DETECTION OF DELETIONS SPANNING THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS USING A TIGHTLY LINKED DNA SEGMENT [J].

MONACO, AP ;

BERTELSON, CJ ;

MIDDLESWORTH, W ;

COLLETTI, CA ;

ALDRIDGE, J ;

FISCHBECK, KH ;

BARTLETT, R ;

PERICAKVANCE, MA ;

ROSES, AD ;

KUNKEL, LM .

NATURE, 1985, 316 (6031) :842-845

[25] Refined genetic mapping of the Darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome bacterial artificial chromosome contig of the critical region [J].

Monk, S ;

Sakuntabhai, A ;

Carter, SA ;

Bryce, SD ;

Cox, R ;

Harrington, L ;

Levy, E ;

Ruiz-Perez, VL ;

Katsantoni, E ;

Kodvawala, A ;

Munro, CS ;

Burge, S ;

Larrègue, M ;

Nagy, G ;

Rees, JL ;

Lathrop, M ;

Monaco, AP ;

Strachan, T ;

Hovnanian, A .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) :890-903

[26] THE SELECTIVE ISOLATION OF NOVEL CDNAS ENCODED BY THE REGIONS SURROUNDING THE HUMAN INTERLEUKIN-4 AND INTERLEUKIN-5 GENES [J].

MORGAN, JG ;

DOLGANOV, GM ;

ROBBINS, SE ;

HINTON, LM ;

LOVETT, M .

NUCLEIC ACIDS RESEARCH, 1992, 20 (19) :5173-5179

[27] Clinical and molecular genetics of primary dystonias [J].

Muller, U ;

Steinberger, D ;

Nemeth, AH .

NEUROGENETICS, 1998, 1 (03) :165-177

[28] DXS1O6 AND DXS559 FLANK THE X-LINKED DYSTONIA-PARKINSONISM SYNDROME LOCUS (DYT3) [J].

MULLER, U ;

HABERHAUSEN, G ;

WAGNER, T ;

FAIRWEATHER, ND ;

CHELLY, J ;

MONACO, AP .

GENOMICS, 1994, 23 (01) :114-117

[29]

Nagase T, 1996, DNA Res, V3, P43, DOI 10.1093/dnares/3.1.43

[30]

NAKASHIMA T, 1994, GENE, V141, P193

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