Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis

被引：73

作者：

Hayward, C ^{[1
]}

Colville, S

Swingler, RJ

Brock, DJH

机构：

[1] Univ Edinburgh, Western Gen Hosp, Human Genet Unit, Mol Med Ctr, Edinburgh EH4 2XU, Midlothian, Scotland

[2] Ninewells Hosp, Dept Neurol, Dundee DD1 9SY, Scotland

来源：

NEUROLOGY | 1999年 / 52卷 / 09期

关键词：

D O I：

10.1212/WNL.52.9.1899

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We analyzed genomic DNA from ALS patients for mutations in the apurinic/apyrimidinic endonuclease (APEX nuclease) gene. We identified three rare polymorphisms in the untranslated region of the gene and one common two-allele polymorphism (D148E). The allelic frequency D148E was significantly different in sporadic ALS patients compared with controls. A conserved amino acid change and a 4-base pair deletion were also identified in sporadic ALS patients. These data suggest that APEX nuclease may contribute to the etiology of ALS.

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页码：1899 / 1901

页数：3

相关论文

共 10 条

[1] GenBank [J].

Benson, DA ;

Boguski, MS ;

Lipman, DJ ;

Ostell, J ;

Ouellette, BFF .

NUCLEIC ACIDS RESEARCH, 1998, 26 (01) :1-7

[2] A NEW HYPOTHESIS OF THE ETIOLOGY OF AMYOTROPHIC LATERAL SCLEROSIS - THE DNA HYPOTHESIS [J].

BRADLEY, WG ;

KRASIN, F .

ARCHIVES OF NEUROLOGY, 1982, 39 (11) :677-680

[3] IDENTIFICATION OF A NOVEL NONSENSE MUTATION IN THE FIBRILLIN GENE (FBN1) USING NONISOTOPIC TECHNIQUES [J].

HAYWARD, C ;

PORTEOUS, MEM ;

BROCK, DJH .

HUMAN MUTATION, 1994, 3 (02) :159-162

[4]

HERN JEC, 1992, J NEUROL NEUROSUR PS, V55, P536

[5] SUPEROXIDE-DISMUTASE MUTATIONS IN AN UNSELECTED COHORT OF SCOTTISH AMYOTROPHIC-LATERAL-SCLEROSIS PATIENTS [J].

JONES, CT ;

SWINGLER, RJ ;

SIMPSON, SA ;

BROCK, DJH .

JOURNAL OF MEDICAL GENETICS, 1995, 32 (04) :290-292

[6] Evidence of reduced DNA repair in amyotrophic lateral sclerosis brain tissue [J].

Kisby, GE ;

Milne, J ;

Sweatt, C .

NEUROREPORT, 1997, 8 (06) :1337-1340

[7]

Krook Anna, 1992, Human Molecular Genetics, V1, P391, DOI 10.1093/hmg/1.6.391

[8] Mutant AP endonuclease in patients with amyotrophic lateral sclerosis [J].

Olkowski, ZL .

NEUROREPORT, 1998, 9 (02) :239-242

[9] STRUCTURE OF THE HUMAN DNA-REPAIR GENE HAP1 AND ITS LOCALIZATION TO CHROMOSOME 14Q 11 2-12 [J].

ROBSON, CN ;

HOCHHAUSER, D ;

CRAIG, R ;

RACK, K ;

BUCKLE, VJ ;

HICKSON, ID .

NUCLEIC ACIDS RESEARCH, 1992, 20 (17) :4417-4421

[10] MUTATIONS IN CU/ZN SUPEROXIDE-DISMUTASE GENE ARE ASSOCIATED WITH FAMILIAL AMYOTROPHIC-LATERAL-SCLEROSIS [J].

ROSEN, DR ;

SIDDIQUE, T ;

PATTERSON, D ;

FIGLEWICZ, DA ;

SAPP, P ;

HENTATI, A ;

DONALDSON, D ;

GOTO, J ;

OREGAN, JP ;

DENG, HX ;

RAHMANI, Z ;

KRIZUS, A ;

MCKENNAYASEK, D ;

CAYABYAB, A ;

GASTON, SM ;

BERGER, R ;

TANZI, RE ;

HALPERIN, JJ ;

HERZFELDT, B ;

VANDENBERGH, R ;

HUNG, WY ;

BIRD, T ;

DENG, G ;

MULDER, DW ;

SMYTH, C ;

LAING, NG ;

SORIANO, E ;

PERICAKVANCE, MA ;

HAINES, J ;

ROULEAU, GA ;

GUSELLA, JS ;

HORVITZ, HR ;

BROWN, RH .

NATURE, 1993, 362 (6415) :59-62