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Two different genes for X-linked retinitis pigmentosa.
B Wirth1, M J Denton, J D Chen
1Institut für Humangenetik, Medizinische Statistik der Universität, Bonn, Federal Republic of Germany.
Genomics
|April 1, 1988
Summary
Genetic linkage studies reveal X-linked retinitis pigmentosa (RP) may stem from multiple genetic loci. This research suggests RP2 is not always linked to DXS7, indicating genetic heterogeneity in RP.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- X-linked retinitis pigmentosa (RP) is a group of inherited retinal diseases.
- Previous studies suggested a single RP locus (RP2) linked to marker DXS7 on Xp11.3.
Purpose of the Study:
- To investigate the genetic heterogeneity of X-linked retinitis pigmentosa.
- To determine the precise genetic loci associated with RP in specific kindreds.
Main Methods:
- Conducted linkage analysis using DNA markers on the X chromosome (Xp).
- Examined three large multigenerational families affected with X-linked RP.
- Assessed recombination frequencies between the RP2 locus and various marker loci (DXS7, OTC, DXS148).
Main Results:
- A 10% recombination rate was observed between the RP2 locus and DXS7 (Xp11.3).
- However, RP2 showed close linkage with no recombination to OTC and DXS148 (Xp21) in the studied kindreds.
- These findings indicate the presence of an RP locus distal to DXS7.
Conclusions:
- X-linked retinitis pigmentosa exhibits genetic heterogeneity.
- Mutations at different genetic loci can cause X-linked RP.
- This challenges previous assumptions of a single RP locus linked to DXS7.