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First to describe the clinical features associated with an RP2 mutation...


Biology Articles » Genetics » A New Leu253Arg Mutation in the RP2 Gene in a Japanese Family with X-Linked Retinitis Pigmentosa » Figures

Figures
- A New Leu253Arg Mutation in the RP2 Gene in a Japanese Family with X-Linked Retinitis Pigmentosa

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Figure 1. A pedigree showing affected members with XlRP associated with Leu253Arg mutation in the RP2 gene. Open symbols indicate unaffected subjects; solid symbols, affected; X, individuals examined in this study; dot in the circle, carrier; symbols with slashes, deceased member; and arrow, proband.

Figure 1

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Figure 2. Fundus photograph from the proband with Leu253Arg mutation and the obligate carrier. The right eye of the proband (top left) and the right eye of the carrier (top right). Fluorescein angiography of the proband. Both eyes had hyperfluorescent spots corresponding to the atrophy of retinal pigment epithelium. The right eye (bottom left) and the left eye (bottom right).

Figure 2

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Figure 3. Results of Goldmann visual field testing of the proband. L, left eye; R, right eye.

figure 3

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Figure 4. Results of SSCP analysis (top) and DNA sequence analysis (bottom) of a family with the Leu253Arg mutation in the RP2 gene. Normal control is designated as N. Lane 8 indicates the obligate carrier (II-4); lane 9, the proband (III-4). Lanes 1 to 7 and lane 10 to lane 11 indicate the other XlRP patients. Identical abnormal band shifts (arrows) are seen in both cases; furthermore, the carrier had normal band. Arrowheads indicate the position of the normal allele and arrows show the position of the mutated alleles. Bottom: the sequence from the carrier (II-4) showed both normal alleles and mutant allele in codon 253. Arrows indicate the position of the mutation. In the lower sequence, mutant allele from the affected patients shows CGA in codon 253, resulting in the substitution of arginine for leucine.

figure 4

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Source: Investigative Ophthalmology and Visual Science. 2000;41:290-293. © 2000 by The Association for Research in Vision and Ophthalmology, Inc.

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