LINKAGE OF A GENE FOR DOMINANT NON-SYNDROMIC DEAFNESS TO CHROMOSOME-19

被引：65

作者：

CHEN, AH

NI, L

FUKUSHIMA, K

MARIETTA, J

ONEILL, M

COUCKE, P

WILLEMS, P

SMITH, RJH

机构：

[1] UNIV IOWA,DEPT DERMATOL,MOLEC OTOLARYNGOL RES LABS,IOWA CITY,IA 52242

[2] UNIV ANTWERP,DEPT MED GENET,B-2020 ANTWERP,BELGIUM

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 06期

关键词：

D O I：

10.1093/hmg/4.6.1073

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：

Inherited hearing impairment can occur either in the presence of other clinical features (syndromic hearing loss, SHL) or in isolation (non-syndromic hearing loss, NSHL), The latter is more common and is highly heterogeneous, To date, six NSHL loci have been mapped, We report the identification of a seventh locus (DFNA4) on chromosome 19q13 and suggest DM kinase as a possible candidate gene.

引用

页码：1073 / 1076

页数：4

共 40 条

[31] Verhagen W.I.M., Bruggen P.J., Huygen P.L.M., Oculomotor, auditory, and vestibular responses in myotonic dystrophy, Arch. Neurol, 49, pp. 954-960, (1992)
[32] Harper P.S., Myotonic Dystrophy, (1989)
[33] Mahadevan M., Tsilfidis C., Sabourin L., Shutler G., Myotonic Dystrophy Mutation: An Unstable CTG Repeat in the 3’untranslated Region of the Gene. Science, 255, pp. 1253-1255, (1992)
[34] Jansen G., Mahadevan M., Amemiya C., Wormskamp N., Segers B., Hendriks W., O'Hoy K., Baird S., Sabourin L., Lennon G., Jap P.L., Lies D., Coerwinkel M., Hofker M., Carrano A.V., De Jong P., Korneluk R.G., Wieringa B., Characterization of the myotonic dystrophyregion predicts multiple protein isoform-encoding mRNAs, Nature Genet, 1, pp. 261-266, (1992)
[35] Rohrkasten A., Meyer H.E., Nastainczyk M., Sieber F., Hoffman J., C-AMP dependent protein kinase rapidly phosphorylates serine-687 of the skeletal muscle receptor for calcium channel blockers, J. Biol.Chem, 263, pp. 15325-15328, (1988)
[36] Catterall W.A., Excitation contraction coupling in vertebrateskeletal muscle: A tale of two calcium channels, Cell, 64, pp. 871-874, (1991)
[37] Moxley R.T., Corbett A.J., Minaker K.L., Rowe J.W., Wholebody insulin resistance in myotonic dystrophy, Ann. Neurol, 15, pp. 157-162, (1974)
[38] Wilkie A.O.M., The molecular basis of genetic dominance, J. Med.Genet, 31, pp. 89-98, (1994)
[39] Grimberg J., Nawoschik S., Belluscio L., McKee R., Turck A., Eisenberg A., A simple and efficient non-organic procedure forthe isolation of genomic DNA from blood, Nucleic Acids Res., 17, (1989)
[40] Hum.Genomic News, 3, pp. 1-4, (1991)

← 1 2 3 4 →