The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q

被引:25
作者
Coucke, P
VanCamp, G
Demirhan, O
Kabakkaya, Y
Balemans, W
VanHauwe, P
VanAgtmael, T
Smith, RJH
Parving, A
Bolder, CHHM
Cremers, CWRJ
Willems, PJ
机构
[1] UNIV ANTWERP, DEPT MED GENET, UIA, B-2610 ANTWERP, BELGIUM
[2] CUKUROVA UNIV, FAC MED, DEPT MED BIOL, TR-01330 BALCALI, TURKEY
[3] ORTA DOGU PRIVATE HOSP, DEPT OTOLARYNGOL, ADANA, TURKEY
[4] UNIV IOWA, DEPT OTOLARYNGOL, IOWA CITY, IA 52242 USA
[5] BISPEBJERG HOSP, DEPT AUDIOL, DK-2400 COPENHAGEN, DENMARK
[6] UNIV NIJMEGEN HOSP, DEPT OTORHINOLARYNGOL, NL-6500 HB NIJMEGEN, NETHERLANDS
关键词
D O I
10.1006/geno.1996.4541
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Pendred syndrome is an autosomal recessive disorder characterized by goiter and congenital deafness. The primary defect is not yet known, although the gene causing Pendred syndrome has been localized very recently on chromosome 7q, a region that also contains a gene responsible for nonsyndromal hearing loss (DFNB4). We confirmed linkage to this chromosome 7 region in five Pendred families originating from different ethnic groups, with a highest cumulative led score of 8.26 for marker D7S501. In combination with previous reports, our results define a candidate region for the Pendred gene of 1.7 cM flanked by markers D7S501 and D7S692. (C) 1997 Academic Press.
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页码:48 / 54
页数:7
相关论文
共 26 条
[1]  
AYADI M, 1996, EUR J HUM GENET, V4, P6
[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]  
BATSAKIS JG, 1962, ARCH OTOLARYNGOL, V76, P25
[4]   NORMAL PEROXIDASE-ACTIVITY IN PENDREDS SYNDROME [J].
BURROW, GN ;
SPAULDING, SW ;
ALEXANDER, NM ;
BOWER, BF .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1973, 36 (03) :522-530
[5]   STUDIES ON THYROIDAL DEFECT IN AN ATYPICAL FORM OF PENDREDS SYNDROME [J].
CAVE, WT ;
DUNN, JT .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1975, 41 (03) :590-599
[6]  
COUCKE P, 1995, MED GENETIK, V7, P249
[7]   Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4 [J].
Coyle, B ;
Coffey, R ;
Armour, JAL ;
Gausden, E ;
Hochberg, Z ;
Grossman, A ;
Britton, K ;
Pembrey, M ;
Reardon, W ;
Trembath, R .
NATURE GENETICS, 1996, 12 (04) :421-423
[8]  
CREMERS CWR, 1976, T KINDERGENEESK, V44, P89
[9]   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
[10]  
DUMONT JE, 1994, THYROID DISORDERS, V73, P1843