Abstract
A large four generation Japanese family was studied, in which autosomal dominant retinitis pigmentosa (ADRP) of very variable expression was segregating. Positive lod scores with maxima between 1.557-5.118 at theta = 0.00, strongly suggestive of linkage, were obtained for KLK, D19S180, D19S418, and D19S254 on chromosome 19q. Recently, an ADRP locus has been mapped to the same region in a British family, in which, again, several members subjectively had no clinical evidence of the disease although they had both an affected parent and an affected child.
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Selected References
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- Buetow K. H., Weber J. L., Ludwigsen S., Scherpbier-Heddema T., Duyk G. M., Sheffield V. C., Wang Z., Murray J. C. Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet. 1994 Apr;6(4):391–393. doi: 10.1038/ng0494-391. [DOI] [PubMed] [Google Scholar]
- Greenberg J., Goliath R., Beighton P., Ramesar R. A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet. 1994 Jun;3(6):915–918. doi: 10.1093/hmg/3.6.915. [DOI] [PubMed] [Google Scholar]
- Gyapay G., Morissette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat Genet. 1994 Jun;7(2 Spec No):246–339. doi: 10.1038/ng0694supp-246. [DOI] [PubMed] [Google Scholar]
- Moore A. T., Fitzke F., Jay M., Arden G. B., Inglehearn C. F., Keen T. J., Bhattacharya S. S., Bird A. C. Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. Br J Ophthalmol. 1993 Aug;77(8):473–479. doi: 10.1136/bjo.77.8.473. [DOI] [PMC free article] [PubMed] [Google Scholar]
- al-Maghtheh M., Inglehearn C. F., Keen T. J., Evans K., Moore A. T., Jay M., Bird A. C., Bhattacharya S. S. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet. 1994 Feb;3(2):351–354. doi: 10.1093/hmg/3.2.351. [DOI] [PubMed] [Google Scholar]