A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23

被引：61

作者：

Chaib, H

Place, C

Salem, N

Chardenoux, S

Vincent, C

Weissenbach, J

ElZir, E

Loiselet, J

Petit, C

机构：

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

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

[3] GENETHON, F-91002 EVRY, FRANCE

[4] HOP SACRE COEUR, CLIN AUDIOL, BAABDA, LEBANON

来源：

HUMAN MOLECULAR GENETICS | 1996年 / 5卷 / 01期

关键词：

D O I：

10.1093/hmg/5.1.155

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：

The recessive mode of transmission accounts for similar to 75% of inherited non syndromic deafness cases. We have previously designed the conditions for linkage studies of this highly heterogeneous disorder [Guilford et al. (1994) Nature Genet. 6, 24-28]. Here, using a similar approach, we have studied the segregation of a gene responsible for congenital, profound and fully penetrant sensorineural deafness in a consanguineous family living in an isolated region of Lebanon. A maximum lod score of 8.03 (theta = 0.00) was detected with a new polymorphic marker, AFMa052yb5 (D2S2144). Observed recombinants and homozygosity mapping define a maximum interval of 2 cM for this gene, DFNB6, which lies between AFMb346ye5 (a new polymorphic marker) (D2S2303) and AFM254vc9 (D2S174) on chromosome 2p22-23.

引用

收藏

页码：155 / 158

页数：4

相关论文

共 39 条

[1] GENETIC-COUNSELING OF THE DEAF - MEDICAL AND CULTURAL CONSIDERATIONS [J].

ARNOS, KS ;

ISRAEL, J ;

CUNNINGHAM, M .

ANNALS OF THE NEW YORK ACADEMY OF SCIENCES-SERIES, 1991, 630 :212-222

[2] 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

[3] 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

[4] LOCALIZATION OF THE HUMAN BONA-FIDE CALMODULIN GENES CALM1, CALM2, AND CALM3 TO CHROMOSOME-14Q24-Q31, CHROMOSOME-2P21.1-P21.3, AND CHROMOSOME-19Q13.2-Q13.3 [J].

BERCHTOLD, MW ;

EGLI, R ;

RHYNER, JA ;

HAMEISTER, H ;

STREHLER, EE .

GENOMICS, 1993, 16 (02) :461-465

[5] 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

[6] 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

[7] AUDIOGENIC SEIZURE PRONE (ASP) - A GENE AFFECTING BEHAVIOR IN LINKAGE GROUP 8 OF MOUSE [J].

COLLINS, RL ;

FULLER, JL .

SCIENCE, 1968, 162 (3858) :1137-&

[8] NEW GENETIC LOCUS MAPPED FROM BEHAVIORAL VARIATION IN MICE - AUDIOGENIC SEIZURE PRONE (ASP) [J].

COLLINS, RL .

BEHAVIOR GENETICS, 1970, 1 (02) :99-109

[9] 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

[10] 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

← 1 2 3 4 →