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尤塞氏综合征的基因异质性

Genetic heterogeneity of Usher syndrome.

作者信息

Kimberling W J, Orten D, Pieke-Dahl S

机构信息

Boys Town National Research Hospital, Omaha, Nebr., USA.

出版信息

Adv Otorhinolaryngol. 2000;56:11-8. doi: 10.1159/000059077.

DOI:10.1159/000059077
PMID:10868209
Abstract

Progress towards the understanding of the molecular basis of US has been substantial. Nine different loci have been found to be responsible and two have had the specific gene identified. This information is expected to lay the foundation for the eventual development of new treatment strategies. Usher syndrome is the combined loss of both of humans most important two senses and a better understanding of the genes involved should not only help the families with US but will also provide much needed basic information about the hearing and visual systems.

摘要

在理解Usher综合征(US)分子基础方面已取得重大进展。已发现九个不同的基因座与之相关,其中两个已确定了具体基因。这些信息有望为最终开发新的治疗策略奠定基础。Usher综合征是人类最重要的两种感官同时丧失,更好地了解相关基因不仅有助于患有Usher综合征的家庭,还将提供有关听觉和视觉系统急需的基础信息。

相似文献

1
Genetic heterogeneity of Usher syndrome.尤塞氏综合征的基因异质性
Adv Otorhinolaryngol. 2000;56:11-8. doi: 10.1159/000059077.
2
Genetic studies of Usher syndrome.
Ann N Y Acad Sci. 1991;630:167-75. doi: 10.1111/j.1749-6632.1991.tb19585.x.
3
A progress report on the localization of Usher syndrome type II to chromosome 1q.
Ann N Y Acad Sci. 1991;630:284-7. doi: 10.1111/j.1749-6632.1991.tb19606.x.
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Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers.相对于11q13.5微卫星标记的1型Usher综合征基因MYO7A的图谱精修。
Clin Genet. 1998 Aug;54(2):155-8. doi: 10.1111/j.1399-0004.1998.tb03720.x.
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Defective myosin VIIA gene responsible for Usher syndrome type 1B.导致1B型Usher综合征的肌球蛋白VIIA基因缺陷。
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Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.尤塞氏综合征的遗传异质性:对151个I型尤塞氏综合征家系的分析
Am J Hum Genet. 2000 Dec;67(6):1569-74. doi: 10.1086/316889. Epub 2000 Nov 1.
7
Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway.
Clin Genet. 1987 Apr;31(4):255-64. doi: 10.1111/j.1399-0004.1987.tb02804.x.
8
Linkage studies of Usher syndrome type 1: exclusion results from the Usher syndrome consortium.
Genomics. 1992 Nov;14(3):707-14. doi: 10.1016/s0888-7543(05)80172-7.
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Localization of Usher syndrome type II to chromosome 1q.
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Genetic heterogeneity of Usher syndrome type 1 in French families.法裔家族中1型Usher综合征的遗传异质性。
Genomics. 1994 May 1;21(1):138-43. doi: 10.1006/geno.1994.1235.

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