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多伊内(病)再探讨。

Doyne revisited.

作者信息

Jay M, Plant C, Evans K, Gregory C Y

机构信息

Department of Clinical Ophthalmology, Moorfields Eye Hospital, London, UK.

出版信息

Eye (Lond). 1996;10 ( Pt 4):469-72. doi: 10.1038/eye.1996.103.

Abstract

Inherited retinal dystrophies are important causes of blindness in the Western world. Molecular genetic techniques, and the use of large pedigrees exhibiting such conditions, have been instrumental in finding causative disease genes. The genealogy of families with a rare condition known as Doyne's honeycomb retinal degeneration was first described in 1899. Investigating this phenotype is extremely important because of the similarities it shares with age-related macular degeneration, and it may lead us to a gene that is involved in this complex genetic trait. In this paper we review the original genealogy of the families described by Doyne, and explain the methods used to identify the living descendants of these families.

摘要

遗传性视网膜营养不良是西方世界失明的重要原因。分子遗传学技术以及对表现出此类病症的大型家系的研究,对于发现致病基因起到了重要作用。一种名为多因蜂窝状视网膜变性的罕见病症的家系最早于1899年被描述。研究这种表型极为重要,因为它与年龄相关性黄斑变性有相似之处,这可能会引导我们找到与这种复杂遗传特征相关的基因。在本文中,我们回顾了多因所描述家系的原始族谱,并解释了用于识别这些家系在世后代的方法。

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