Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium

被引:62
作者
Ozelius, LJ
Hewett, J
Kramer, P
Bressman, SB
Shalish, C
deLeon, D
Rutter, M
Risch, N
Brin, MF
Markova, ED
Limborska, SA
IvanovaSmolenskaya, IA
McCormick, MK
Fahn, S
Buckler, AJ
Gusella, JF
Breakefield, XO
机构
[1] HARVARD UNIV, MASSACHUSETTS GEN HOSP, SCH MED, MOL NEUROGENET UNIT, BOSTON, MA 02114 USA
[2] HARVARD UNIV, SCH MED, DEPT NEUROL, BOSTON, MA 02114 USA
[3] HARVARD UNIV, SCH MED, DEPT GENET, BOSTON, MA 02114 USA
[4] COLUMBIA PRESBYTERIAN MED CTR, DEPT SURG, DYSTONIA CLIN RES CTR, NEW YORK, NY 10032 USA
[5] STANFORD UNIV, DEPT GENET, STANFORD, CA 94305 USA
[6] OREGON HLTH SCI UNIV, DEPT NEUROL, PORTLAND, OR 97201 USA
[7] INST NEUROL, MOSCOW 123367, RUSSIA
[8] INST GENET MOL, MOSCOW 123367, RUSSIA
[9] MT SINAI HOSP, DEPT NEUROL, MOVEMENT DISORDERS CTR, NEW YORK, NY 10029 USA
关键词
D O I
10.1101/gr.7.5.483
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The DYT1 gene, which maps to chromosome 9q34, appears to be responsible For most cases of early-onset torsion dystonia in both Ashkenazic Jewish (AJ) and non-Jewish families. This disease is inherited in an autosomal dominant mode with reduced penetrance (30%-40%). The abnormal involuntary movements associated with this disease are believed to be caused by unbalanced neural transmission in the basal ganglia. Previous linkage disequilibrium studies in the Al population placed the DY71 gene in a 2-cM region between the loci D9S62a and ASS. A YAC contig has now been created spanning 600 kb of this region including D9S62a. The location of the DYT1 gene has been refined within this contig using several new polymorphic loci to expand the linkage disequilibrium analysis of the AJ founder mutation. The most likely location of the DYT1 gene is within a 150 kb region between the loci D9S2161 and DPS63.
引用
收藏
页码:483 / 494
页数:12
相关论文
共 44 条
[21]   HEREDITARY PROGRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION CAUSED BY MUTATIONS IN THE GTP CYCLOHYDROLASE-I GENE [J].
ICHINOSE, H ;
OHYE, T ;
TAKAHASHI, E ;
SEKI, N ;
HORI, T ;
SEGAWA, M ;
NOMURA, Y ;
ENDO, K ;
TANAKA, H ;
TSUJI, S ;
FUJITA, K ;
NAGATSU, T .
NATURE GENETICS, 1994, 8 (03) :236-242
[22]   TORSION DYSTONIA IN ISRAEL [J].
KORCZYN, AD ;
KAHANA, E ;
ZILBER, N ;
STREIFLER, M ;
CARASSO, R ;
ALTER, M .
ANNALS OF NEUROLOGY, 1980, 8 (04) :387-391
[23]   DYSTONIA GENE IN ASHKENAZI JEWISH POPULATION IS LOCATED ON CHROMOSOME-9Q32-34 [J].
KRAMER, PL ;
DELEON, D ;
OZELIUS, L ;
RISCH, N ;
BRESSMAN, SB ;
BRIN, MF ;
SCHUBACK, DE ;
BURKE, RE ;
KWIATKOWSKI, DJ ;
SHALE, H ;
GUSELLA, JF ;
BREAKEFIELD, XO ;
FAHN, S .
ANNALS OF NEUROLOGY, 1990, 27 (02) :114-120
[24]  
KRAMER PL, 1994, AM J HUM GENET, V55, P468
[25]  
KRAMER PL, 1995, HDB DYSTONIA, P43
[26]  
Kurlan R, 1988, Adv Neurol, V50, P385
[27]   CONSTRUCTION OF A GT POLYMORPHISM MAP OF HUMAN 9Q [J].
KWIATKOWSKI, DJ ;
HENSKE, EP ;
WEIMER, K ;
OZELIUS, L ;
GUSELLA, JF ;
HAINES, J .
GENOMICS, 1992, 12 (02) :229-240
[28]   ALCOHOL-RESPONSIVE MYOCLONIC DYSTONIA IN A LARGE FAMILY - DOMINANT INHERITANCE AND PHENOTYPIC VARIATION [J].
KYLLERMAN, M ;
FORSGREN, L ;
SANNER, G ;
HOLMGREN, G ;
WAHLSTROM, J ;
DRUGGE, U .
MOVEMENT DISORDERS, 1990, 5 (04) :270-279
[29]   Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution [J].
Leube, B ;
Rudnicki, D ;
Ratzlaff, T ;
Kessler, KR ;
Benecke, R ;
Auburger, G .
HUMAN MOLECULAR GENETICS, 1996, 5 (10) :1673-1677
[30]   THE HUNTINGTONS-DISEASE CANDIDATE REGION EXHIBITS MANY DIFFERENT HAPLOTYPES [J].
MACDONALD, ME ;
NOVELLETTO, A ;
LIN, C ;
TAGLE, D ;
BARNES, G ;
BATES, G ;
TAYLOR, S ;
ALLITTO, B ;
ALTHERR, M ;
MYERS, R ;
LEHRACH, H ;
COLLINS, FS ;
WASMUTH, JJ ;
FRONTALI, M ;
GUSELLA, JF .
NATURE GENETICS, 1992, 1 (02) :99-103