Analysis of GJB2 mutation:: evidence for a Mediterranean ancestor for the 35delG mutation

被引：22

作者：

Belguith, H ^{[1
]}

Hajji, S ^{[1
]}

Salem, N ^{[1
]}

Charfeddine, I ^{[1
]}

Lahmar, I ^{[1
]}

Amor, MB ^{[1
]}

Ouldim, K ^{[1
]}

Chouery, E ^{[1
]}

Driss, N ^{[1
]}

Drira, M ^{[1
]}

Mégarbané, A ^{[1
]}

Rebai, A ^{[1
]}

Sefiani, A ^{[1
]}

Masmoudi, S ^{[1
]}

Ayadi, H ^{[1
]}

机构：

[1] Fac Med, Lab Genet Mol Humaine, Sfax 3029, Tunisia

来源：

CLINICAL GENETICS | 2005年 / 68卷 / 02期

关键词：

D O I：

10.1111/j.1399-0004.2005.00474.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：188 / 189

页数：2

共 14 条

[1] Prevalent connexin 26 gene (GJB2) mutations in Japanese [J].

Abe, S ;

Usami, S ;

Shinkawa, H ;

Kelley, PM ;

Kimberling, WJ .

JOURNAL OF MEDICAL GENETICS, 2000, 37 (01) :41-43

[2]

[Anonymous], 1998, DNA FINGERPRINTING

[3] Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene [J].

Denoyelle, F ;

Weil, D ;

Maw, MA ;

Wilcox, SA ;

Lench, NJ ;

AllenPowell, DR ;

Osborn, AH ;

Dahl, HHM ;

Middleton, A ;

Houseman, MJ ;

Dode, C ;

Marlin, S ;

BoulilaElGgaied, A ;

Grati, M ;

Ayadi, H ;

BenArab, S ;

Bitoun, P ;

LinaGranade, G ;

Godet, J ;

Mustapha, M ;

Loiselet, J ;

ElZir, E ;

Aubois, A ;

Joannard, A ;

Levilliers, J ;

Garabedian, EN ;

Mueller, RF ;

Gardner, RJM ;

Petit, C .

HUMAN MOLECULAR GENETICS, 1997, 6 (12) :2173-2177

[4] Gaucher disease:: The N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago [J].

Díaz, A ;

Montfort, M ;

Cormand, B ;

Zeng, BJ ;

Pastores, GM ;

Chabás, A ;

Vilageliu, L ;

Grinberg, D .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (04) :1233-1238

[5] High carrier frequency of the 35delG deafness mutation in European populations [J].

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 .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (01) :19-23

[6] Connexin 26 mutations in hereditary non-syndromic sensorineural deafness [J].

Kelsell, DP ;

Dunlop, J ;

Stevens, HP ;

Lench, NJ ;

Liang, JN ;

Parry, G ;

Mueller, RF ;

Leigh, IM .

NATURE, 1997, 387 (6628) :80-83

[7]

Luria SE, 1943, GENETICS, V28, P491

[8]

Masmoudi S, 2000, J Med Genet, V37, pE39, DOI 10.1136/jmg.37.11.e39

[9]

Mustapha M, 2001, J Med Genet, V38, pE36, DOI 10.1136/jmg.38.10.e36

[10] Connexin26 mutations associated with nonsyndromic hearing loss [J].

Park, HJ ;

Hahn, SH ;

Chun, YM ;

Park, K ;

Kim, HN .

LARYNGOSCOPE, 2000, 110 (09) :1535-1538

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