The status of SCA1, MJD/SCA3, FRDA, DRPLA and MD triplet containing genes in patients with Huntington disease and healthy controls

被引：8
|
作者：
Keckarevic, D
Culjkovic, B
Savic, D
Stojkovic, O
Kostic, V
Vukosavic, S
Romac, S
机构：
[1] Univ Belgrade, Fac Biol, YU-11000 Belgrade, Yugoslavia
[2] Univ Belgrade, Sch Med, YU-11000 Belgrade, Yugoslavia
[3] Columbia Univ, Dept Neurol, New York, NY 10032 USA
来源：
JOURNAL OF NEUROGENETICS | 2000年 / 14卷 / 04期
关键词：
mutant alleles; PCR analyses; trinucleotide repeats; expansion;
D O I：
10.3109/01677060009084502
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A number of human hereditary neuromuscular and neurodegenerative disorders are caused by the expansion of trinucleotide repeats within certain genes. Here we report the results of the analysis of five trinucleotide repeats containing genes (SCAI, MJD/SCA3, DRPLA, FRDA and MD) in HD patients and in a group of healthy controls. Allelic frequency distributions for SCAI and FRDA genes were shifted toward larger alleles in the group of unrelated HD patients, compared to healthy controls. This linkage disequilibrium suggests a possible existance of a common mechanism of trinucleotide repeats expansion in these loci.
引用
收藏
页码：257 / 263
页数：7
相关论文
共 30 条
  • [21] Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes
    Sandra Martins
    Christopher E. Pearson
    Paula Coutinho
    Sylvie Provost
    António Amorim
    Marie-Pierre Dubé
    Jorge Sequeiros
    Guy A. Rouleau
    Human Genetics, 2014, 133 : 1311 - 1318
  • [22] Variation in the promoter of the autophagic beclin-1 gene and changes in its expression levels in Machado-Joseph disease (MJD/SCA3) patients
    Kazachkova, N.
    Raposo, M.
    Montiel, R.
    Lima, M.
    MOVEMENT DISORDERS, 2014, 29 : S474 - S475
  • [23] Selection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects
    Ana F. Ferreira
    Mafalda Raposo
    João Vasconcelos
    Maria do Carmo Costa
    Manuela Lima
    Journal of Molecular Neuroscience, 2019, 69 : 450 - 455
  • [24] Selection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects
    Ferreira, Ana F.
    Raposo, Mafalda
    Vasconcelos, Joao
    Costa, Maria do Carmo
    Lima, Manuela
    JOURNAL OF MOLECULAR NEUROSCIENCE, 2019, 69 (03) : 450 - 455
  • [25] Weight Loss and Increase Insulin Sensitivity in Early Stage Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Patients
    Saute, Jonas
    Russo, Aline
    Souza, Gabriele
    Moreira, Julia
    Muller, Alexandre
    Haas, Clarissa
    Torrez, Vitor
    Monte, Thais
    Castilhos, Raphael
    D'Avila, Rui
    Donis, Karina
    Schumacher-Schuh, Artur
    Saraiva-Pereira, Maria Luiza
    Souza, Diogo
    Portela, Luis Valmor
    Jardim, Laura
    NEUROLOGY, 2013, 80
  • [26] Modifiers of (CAG)n instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes
    Martins, Sandra
    Pearson, Christopher E.
    Coutinho, Paula
    Provost, Sylvie
    Amorim, Antonio
    Dube, Marie-Pierre
    Sequeiros, Jorge
    Rouleau, Guy A.
    HUMAN GENETICS, 2014, 133 (10) : 1311 - 1318
  • [27] No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3
    Hellenbroich, Y
    Kaulich, M
    Opitz, S
    Schwinger, E
    Zühlke, C
    PSYCHIATRIC GENETICS, 2004, 14 (02) : 61 - 63
  • [28] A molecular genetic study on autosomal-dominant ataxias in Japanese. Comparison of the prevalences and CAG repeat expansions among spinocerebellar ataxia (SCA1), spinocerebellar ataxia type 2 (SCA2), Machado-Joseph disease (MJD) and dentatorubral-pallidoluysian atrophy (DRPLA)
    Takano, H
    Ikeuchi, T
    Igarashi, S
    Oyake, M
    Koide, R
    Sasaki, R
    Sanpei, K
    Sasaki, H
    Wakisaka, A
    Tashiro, K
    Iwabuchi, K
    Takiyama, Y
    Nishizawa, M
    Tanaka, H
    NEUROLOGY, 1997, 48 (03) : 26002 - 26002
  • [29] Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients
    Raposo, Mafalda
    Bettencourt, Conceicao
    Ramos, Amanda
    Kazachkova, Nadiya
    Vasconcelos, Joao
    Kay, Teresa
    Bruges-Armas, Jacome
    Lima, Manuela
    NEUROMOLECULAR MEDICINE, 2017, 19 (01) : 41 - 45
  • [30] Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients
    Mafalda Raposo
    Conceição Bettencourt
    Amanda Ramos
    Nadiya Kazachkova
    João Vasconcelos
    Teresa Kay
    Jácome Bruges-Armas
    Manuela Lima
    NeuroMolecular Medicine, 2017, 19 : 41 - 45
123