ISSN:
1435-232X
Keywords:
autosomal dominant retinitis pigmentosa (ADRP)
;
rhodopsin gene
;
point mutation
;
allelic heterogeneity
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Summary The mutations of codon 17, 23, 58, and 347 of rhodopsin gene were investigated in 24 unrelated Japanese families including 33 patients with autosomal dominant retinitis pigmentosa (ADRP). A patient with codon 17 mutation (Thr-17-Met, ACG→ATG) and a family including 4 patients with codon 347 mutation (Pro-347-Leu, CCG→CTG) were detected among them. Their clinical findings were extremely different between the two mutations. The former showed type 2 and the latter showed type 1 ADRP. No mutation of codon 23 and 58 was detected in any families so far analyzed in the present study. Clinical findings associated with the mutation in codon 17 and 347 of the rhodopsin gene show an existence of allelic heterogeneity.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01899733
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