Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation

被引:16
作者
López-Bigas, N
Rabionet, R
Martinez, E
Bravo, O
Girons, J
Borragan, A
Pellicer, M
Arbonés, ML
Estivill, X
机构
[1] Hosp Llobregat, Hosp Duran & Reynals, Med & Mol Genet Ctr, Barcelona 08907, Catalonia, Spain
[2] Hosp Llobregat, Bellvitge Hosp, Otolaryngol Serv, Barcelona 08907, Catalonia, Spain
[3] Hosp Gen Valle Hebron, Pediat Otolaryngol Serv, Barcelona, Spain
[4] Ctr Foniatria & Logoped, Santander, Spain
关键词
D O I
10.1086/302870
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:1465 / 1467
页数:3
相关论文
共 15 条
  • [1] PHYLOGENETIC ANALYSIS OF LEBERS HEREDITARY OPTIC NEUROPATHY MITOCHONDRIAL DNAS INDICATES MULTIPLE INDEPENDENT OCCURRENCES OF THE COMMON MUTATIONS
    BROWN, MD
    TORRONI, A
    RECKORD, CL
    WALLACE, DC
    [J]. HUMAN MUTATION, 1995, 6 (04) : 311 - 325
  • [2] Bykhovskaya Y, 1998, AM J MED GENET, V77, P421, DOI 10.1002/(SICI)1096-8628(19980605)77:5<421::AID-AJMG13>3.0.CO
  • [3] 2-K
  • [4] Connexin 26 gene linked to a dominant deafness
    Denoyelle, F
    Lina-Granade, G
    Plauchu, H
    Bruzzone, R
    Chaïb, H
    Lévi-Acobas, F
    Weil, D
    Petit, C
    [J]. NATURE, 1998, 393 (6683) : 319 - 320
  • [5] Connexin-26 mutations in sporadic and inherited sensorineural deafness
    Estivill, X
    Fortina, P
    Surrey, S
    Rabionet, R
    Melchionda, S
    D'Agruma, L
    Mansfield, E
    Rappaport, E
    Govea, N
    Milà, M
    Zelante, L
    Gasparini, P
    [J]. LANCET, 1998, 351 (9100) : 394 - 398
  • [6] Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides
    Estivill, X
    Govea, N
    Barceló, A
    Perelló, E
    Badenas, C
    Romero, E
    Moral, L
    Scozzari, R
    D'Urbano, L
    Zeviani, M
    Torroni, A
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (01) : 27 - 35
  • [7] High carrier frequency of the 35delG deafness mutation in European populations
    Gasparini, P
    Rabionet, R
    Barbujani, G
    Melchionda, S
    Petersen, M
    Brondum-Nielsen, K
    Metspalu, A
    Oitmaa, E
    Pisano, M
    Fortina, P
    Zelante, L
    Estivill, X
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (01) : 19 - 23
  • [8] Biochemical evidence for nuclear gene involvement phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation
    Guan, MX
    FischelGhodsian, N
    Attardi, G
    [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (07) : 963 - 971
  • [9] Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    Kelsell, DP
    Dunlop, J
    Stevens, HP
    Lench, NJ
    Liang, JN
    Parry, G
    Mueller, RF
    Leigh, IM
    [J]. NATURE, 1997, 387 (6628) : 80 - 83
  • [10] Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia
    Pandya, A
    Xia, XJ
    Erdenetungalag, R
    Amendola, M
    Landa, B
    Radnaabazar, J
    Dangaasuren, B
    Van Tuyle, G
    Nance, WE
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (06) : 1803 - 1806