MAPPING AND CLONING HEREDITARY DEAFNESS GENES

被引：5

作者：

CREMERS, FPM ^{[1
]}

BITNERGLINDZICZ, M ^{[1
]}

PEMBREY, ME ^{[1
]}

ROPERS, HH ^{[1
]}

机构：

[1] UNIV LONDON, INST CHILD HLTH, LONDON WC1N 1EH, ENGLAND

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 1995年 / 5卷 / 03期

关键词：

D O I：

10.1016/0959-437X(95)80053-0

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

In the past two years, considerable progress has been made in the mapping and cloning of human deafness genes. Highlights are the chromosomal localization of at least five genes for autosomal forms of non-syndromic deafness and, more recently, the cloning of an X-linked deafness gene, DFN3, and the Usher syndrome type IB gene. This last gene encodes a myosin-like protein and was identified as the human homolog of the mouse shaker-1 gene. The DFN3 gene Brain 4 encodes a POU domain containing transcription factor that is involved in the development of the inner ear.

引用

页码：371 / 375

页数：5

共 55 条

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[47] Bach, Brunner, Beighton, Ruvalcaba, Reardon, Pembrey, Van der Velde-Visser, Bruns, Cremers, Cremers, Ropers, Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3), Am J Hum Genet, 50, pp. 38-44, (1992)
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[49] Bitner-Glindzicz, De Kok, Summers, Huber, Cremers, Ropers, Reardon, Pembrey, Malcolm, Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families., Journal of Medical Genetics, 31, pp. 916-921, (1994)
[50] Piussan, Hanauer, Dahl, Mathieu, Kolski, Biancalana, Heyberger, Strunski, X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21, Am J Hum Genet, 56, pp. 224-230, (1995)

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