A second Middle Eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9

被引：8

作者：

Leal, SM

Apaydin, F

Barnwell, C

Iber, M

Kandogan, T

Pfister, M

Braendle, U

Cura, O

Schwalb, M

Zenner, HP

Vitale, E

机构：

[1] Rockefeller Univ, Lab Stat Genet, New York, NY 10021 USA

[2] Univ Tubingen, Dept Otolaryngol, Tubingen, Germany

[3] Ege Univ, Sch Med, Dept Otolaryngol, Izmir, Turkey

[4] Univ Med & Dent New Jersey, New Jersey Med Sch, Dept Microbiol & Mol Genet, Newark, NJ 07103 USA

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1998年 / 6卷 / 04期

关键词：

autosomal recessive non-syndromic hearing loss; sensorineural hearing loss; DFNB9;

D O I：

10.1038/sj.ejhg.5200201

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：

A second kindred has been identified which supports the previously reported location of DFNB9. Linkage has been established to markers closely linked to DFNB9 which is located on 2p22-p23. The hearing impaired individuals in this highly consanguineous kindred from Eastern Turkey have prelingual profound hearing loss which affects all frequencies. A genetic map of the 2p22-p23 region where DFNB9 resides was generated using marker genotypes available from the CEPH database. All markers were placed on this genetic map using a likelihood ratio criterion of 1000:1. This map suggests that the region for DFNB9 is less than 1.08 cM, 95% confidence interval (0-2.59 cM).

引用

页码：341 / 344

页数：4

共 12 条

[1] A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23 [J].

Chaib, H ;

Place, C ;

Salem, N ;

Chardenoux, S ;

Vincent, C ;

Weissenbach, J ;

ElZir, E ;

Loiselet, J ;

Petit, C .

HUMAN MOLECULAR GENETICS, 1996, 5 (01) :155-158

[2] PROGRAM DESCRIPTION - CENTER-DETUDE-DU-POLYMORPHISME-HUMAIN (CEPH) - COLLABORATIVE GENETIC-MAPPING OF THE HUMAN GENOME [J].

DAUSSET, J ;

CANN, H ;

COHEN, D ;

LATHROP, M ;

LALOUEL, JM ;

WHITE, R .

GENOMICS, 1990, 6 (03) :575-577

[3] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[4] OPTIMIZATION OF MICROSATELLITE ANALYSIS FOR GENETIC-MAPPING [J].

HUGHES, AE .

GENOMICS, 1993, 15 (02) :433-434

[5] 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

[6] CONSTRUCTION OF MULTILOCUS GENETIC-LINKAGE MAPS IN HUMANS [J].

LANDER, ES ;

GREEN, P .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (08) :2363-2367

[7] STRATEGIES FOR MULTILOCUS LINKAGE ANALYSIS IN HUMANS [J].

LATHROP, GM ;

LALOUEL, JM ;

JULIER, C ;

OTT, J .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (11) :3443-3446

[8] Mutations in the myosin VIIA gene cause non-syndromic recessive deafness [J].

Liu, XZ ;

Walsh, J ;

Mburu, P ;

KendrickJones, J ;

Cope, MJTV ;

Steel, KP ;

Brown, SDM .

NATURE GENETICS, 1997, 16 (02) :188-190

[9] AUTOMATED CONSTRUCTION OF GENETIC-LINKAGE MAPS USING AN EXPERT-SYSTEM (MULTIMAP) - A HUMAN GENOME LINKAGE MAP [J].

MATISE, TC ;

PERLIN, M ;

CHAKRAVARTI, A .

NATURE GENETICS, 1994, 6 (04) :384-390

[10] A COMPREHENSIVE HUMAN LINKAGE WITH CENTIMORGAN DENSITY [J].

MURRAY, JC ;

BUETOW, KH ;

WEBER, JL ;

LUDWIGSEN, S ;

SCHERPBIERHEDDEMA, T ;

MANION, F ;

QUILLEN, J ;

SHEFFIELD, VC ;

SUNDEN, S ;

DUYK, GM ;

WEISSENBACH, J ;

GYAPAY, G ;

DIB, C ;

MORRISSETTE, J ;

LATHROP, GM ;

VIGNAL, A ;

WHITE, R ;

MATSUNAMI, N ;

GERKEN, S ;

MELIS, R ;

ALBERTSEN, H ;

PLAETKE, R ;

ODELBERG, S ;

WARD, D ;

DAUSSET, J ;

COHEN, D ;

CANN, H .

SCIENCE, 1994, 265 (5181) :2049-2054

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