A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter

被引：9

作者：

Boensch, D. ^{[2
]}

Schmidt, C. -M. ^{[1
]}

Scheer, P. ^{[1
]}

Bohlender, J. ^{[1
]}

Neumann, C. ^{[3
]}

Zehnhoff-Dinnesen, A. Am ^{[1
]}

Deufel, T. ^{[3
]}

机构：

[1] Univ Klinikum Munster, Klin & Poliklin Phoniatrie & Padaudiol, D-48129 Munster, Germany

[2] Kliniken Essen Mitte, Abt Psychiat Psychotherapie & Suchtmed, Essen, Germany

[3] Univ Jena, Klin Chem Abt, D-6900 Jena, Germany

来源：

HNO | 2009年 / 57卷 / 04期

关键词：

Hereditary hearing impairment; Linkage analysis; Chromosome; 13q34-qter; DFNA33; Non-syndromic hearing impairment; LINKAGE ANALYSIS; MUTATIONS; DEAFNESS;

D O I：

10.1007/s00106-008-1832-9

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

By investigation of a German family pedigree with non-syndromic hearing impairment of early onset and autosomal-dominant mode of inheritance, linkage to known DFNA loci was excluded, and the existence of a new locus (DFNA33) was revealed. In a subsequent genomic scan the phenotype was mapped to a 6 cM interval on chromosome 13q34-qter. A maximum two-point lod score of 2.96 was obtained for the marker D13S285 with a maximum lod score in the multipoint analysis of 3.28 at 124.56 cM.

引用

页码：371 / 376

页数：6

共 13 条

[11] A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15 [Ein neuer Genort für eine Autosomal Dominante, Nichtsyndromale Hörstörung (DFNA57) kartiert auf Chromosom 19p13.2 und überlappt mit DFNB15]
Bönsch D.
Schmidt C.M.
Scheer P.
Bohlender J.
Neumann C.
Am Zehnhoff-Dinnesen A.
Deufel T.
HNO, 2008, 56 (2) : 177 - 182
[12] A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31
Pulleyn, LJ
Jackson, AP
Roberts, E
Carridice, A
Muxworthy, C
Houseman, M
Al-Gazali, LI
Lench, NJ
Markham, AF
Mueller, RF
EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (12) : 991 - 993
[13] Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood onset
Gallo-Teran, J.
Morales-Angulo, C.
Rodriguez-Ballesteros, M.
Moreno-Pelayo, M. A.
del Castillo, I.
Moreno, F.
ACTA OTORRINOLARINGOLOGICA ESPANOLA, 2005, 56 (10): : 463 - 468

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