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遗传  2002 

A New Study Progress of Molecular Genetics in Autosomal Dominant Retinitis Pigmentosa
视网膜色素变性的分子遗传学研究进展 A New Study Progress of Molecular Genetics in Autosomal Dominant Retinitis Pigmentosa

Keywords: retinitis pigmentosa,autosomal dominant,gene,mutation
视网膜色素变性
,分子遗传学,研究进展,常染色体显性遗传,基因突变

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Abstract:

Retinitis pigmentosa (RP) describes a genetically and clinically heterogeneous group of disorders that are characterized by gradual degeneration of photoreceptor cells.Common clinical features include a progressive loss of night vision,leading to night blindness and peripheral-visual-field loss.At least 12 loci have been mapped to chromosomes,and mutations in an ever increasing number of genes have been found to cause autosomal dominant retinitis pigmentosa (ADRP).Six of the 12 genes known to cause ADRP have been cloned.New progress has been made on the studies of structure,mutation and function of these genes.

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