视网膜色素变性及相关疾病：众多疾病、基因及遗传模式
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.
作者信息
Rivolta Carlo, Sharon Dror, DeAngelis Margaret M, Dryja Thaddeus P
机构信息
Ocular Molecular Genetics Institute, Harvard Medical School and Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA.
出版信息
Hum Mol Genet. 2002 May 15;11(10):1219-27. doi: 10.1093/hmg/11.10.1219.
Retinitis pigmentosa (RP) and allied diseases are heterogeneous clinically and genetically. Here we summarize the retinal cell types involved in these diseases, the large number of genes that cause them, and the variety of inheritance patterns that the affected families display. Special consideration is given to unusual inheritance patterns. The aggregate carrier frequency for recessive RP alleles may be as high as 10%.
视网膜色素变性（RP）及相关疾病在临床和遗传方面具有异质性。在此，我们总结了这些疾病所涉及的视网膜细胞类型、导致这些疾病的大量基因，以及受累家族呈现的多种遗传模式。特别考虑了不寻常的遗传模式。隐性RP等位基因的总体携带者频率可能高达10%。
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