Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22

被引：66

作者：

Chaib, H

Place, C

Salem, N

Dode, C

Chardenoux, S

Weissenbach, J

ElZir, E

Loiselet, J

Petit, C

机构：

[1] INST PASTEUR, URA CNRS 1968, UNITE GENET MOL HUMAINE, F-75724 PARIS 15, FRANCE

[2] ST JOSEPHS UNIV, FAC MED, DEPT BIOCHIM, BEIRUT, LEBANON

[3] GENETHON, F-91000 EVRY, FRANCE

[4] HOP SACRE COEUR, CLIN AUDIOL, BRAZILIA, LIBYA

来源：

HUMAN MOLECULAR GENETICS | 1996年 / 5卷 / 07期

关键词：

D O I：

10.1093/hmg/5.7.1061

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：

We report here, the localization of a new recessive non-syndromal deafness gene (DFNB12) to 10q21-22 by linkage analysis, of a Sunni family, Affected individuals suffer from congenital profound sensorineural hearing loss. A maximum LOD score of 6.40 (theta = 0.00) was obtained with locus D10S535, Analysis of patients carrying recombinations mapped the gene distal to D10S529 and proximal to D10S532, delineating an interval between 11 and 15 cM, Three deaf mouse mutants Jackson circler (jc), waltzer (v) and Ames waltzer (av) have been localized to the homologous murine region on chromosome 10, Each of these mouse mutants is a candidate mouse model for the DFNB12-associated hearing impairment.

引用

收藏

页码：1061 / 1064

页数：4

相关论文

共 40 条

[1] AN EXONIC MUTATION IN THE HUP2 PAIRED DOMAIN GENE CAUSES WAARDENBURG SYNDROME [J].

BALDWIN, CT ;

HOTH, CF ;

AMOS, JA ;

DASILVA, EO ;

MILUNSKY, A .

NATURE, 1992, 355 (6361) :637-638

[2] LINKAGE OF CONGENITAL, RECESSIVE DEAFNESS (DFNB4) TO CHROMOSOME 7Q31 AND EVIDENCE FOR GENETIC-HETEROGENEITY IN THE MIDDLE-EASTERN DRUZE POPULATION [J].

BALDWIN, CT ;

WEISS, S ;

FARRER, LA ;

DESTEFANO, AL ;

ADAIR, R ;

FRANKLYN, B ;

KIDD, KK ;

KOROSTISHEVSKY, M ;

BONNETAMIR, B .

HUMAN MOLECULAR GENETICS, 1995, 4 (09) :1637-1642

[3] ESTIMATED NUMBER OF LOCI FOR AUTOSOMAL RECESSIVE SEVERE NERVE DEAFNESS WITHIN THE ISRAELI JEWISH POPULATION, WITH IMPLICATIONS FOR GENETIC-COUNSELING [J].

BROWNSTEIN, Z ;

FRIEDLANDER, Y ;

PERITZ, E ;

COHEN, T .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 41 (03) :306-312

[4]

BURMEISTER M, 1994, MOUS GEN C

[5] 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

[6] A GENE RESPONSIBLE FOR A DOMINANT FORM OF NEUROSENSORY NON-SYNDROMIC DEAFNESS MAPS TO THE NSRD1 RECESSIVE DEAFNESS GENE INTERVAL [J].

CHAIB, H ;

LINAGRANADE, G ;

GUILFORD, P ;

PLAUCHU, H ;

LEVILLIERS, J ;

MORGON, A ;

PETIT, C .

HUMAN MOLECULAR GENETICS, 1994, 3 (12) :2219-2222

[7] LINKAGE OF A GENE FOR DOMINANT NON-SYNDROMIC DEAFNESS TO CHROMOSOME-19 [J].

CHEN, AH ;

NI, L ;

FUKUSHIMA, K ;

MARIETTA, J ;

ONEILL, M ;

COUCKE, P ;

WILLEMS, P ;

SMITH, RJH .

HUMAN MOLECULAR GENETICS, 1995, 4 (06) :1073-1076

[8] REPORT OF THE COMMITTEE ON METHODS OF LINKAGE ANALYSIS AND REPORTING [J].

CONNEALLY, PM ;

EDWARDS, JH ;

KIDD, KK ;

LALOUEL, JM ;

MORTON, NE ;

OTT, J ;

WHITE, R .

CYTOGENETICS AND CELL GENETICS, 1985, 40 (1-4) :356-359

[9] LINKAGE OF AUTOSOMAL-DOMINANT HEARING-LOSS TO THE SHORT ARM OF CHROMOSOME-1 IN 2 FAMILIES [J].

COUCKE, P ;

VANCAMP, G ;

DJOYODIHARJO, B ;

SMITH, SD ;

FRANTS, RR ;

PADBERG, GW ;

DARBY, JK ;

HUIZING, EH ;

CREMERS, CWRJ ;

KIMBERLING, WJ ;

OOSTRA, BA ;

VANDEHEYNING, PH ;

WILLEMS, PJ .

NEW ENGLAND JOURNAL OF MEDICINE, 1994, 331 (07) :425-431

[10]

DEOL M. S., 1958, HEREDITY, V12, P463, DOI 10.1038/hdy.1958.46

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