Two different genes for X-linked retinitis pigmentosa - PubMed (original) (raw)
Two different genes for X-linked retinitis pigmentosa
B Wirth et al. Genomics. 1988 Apr.
Abstract
Linkage analysis was carried out in three large multigenerational kindreds with X-linked retinitis pigmentosa using DNA markers on Xp. About 10% recombination has been found between the retinitis pigmentosa locus (RP2) and the marker locus DXS7, assigned to band Xp11.3, which was reported earlier to be closely linked to RP2 in several independent families. In the kindreds described in this paper, however, RP2 shows close linkage and no recombination with the marker loci OTC and DXS148, both assigned to Xp21, indicating that, contrary to previous linkage studies, there is evidence of an RP locus distal to DXS7. This suggests that X-linked retinitis pigmentosa is genetically heterogeneous, i.e., caused by mutations at different loci.
Similar articles
- Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.
Coleman M, Bhattacharya S, Lindsay S, Wright A, Jay M, Litt M, Craig I, Davies K. Coleman M, et al. Am J Hum Genet. 1990 Dec;47(6):935-40. Am J Hum Genet. 1990. PMID: 2239970 Free PMC article. - Heterogeneity analysis in 40 X-linked retinitis pigmentosa families.
Teague PW, Aldred MA, Jay M, Dempster M, Harrison C, Carothers AD, Hardwick LJ, Evans HJ, Strain L, Brock DJ, et al. Teague PW, et al. Am J Hum Genet. 1994 Jul;55(1):105-11. Am J Hum Genet. 1994. PMID: 8023838 Free PMC article. - Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
Wright AF, Bhattacharya SS, Aldred MA, Jay M, Carothers AD, Thomas NS, Bird AC, Jay B, Evans HJ. Wright AF, et al. J Med Genet. 1991 Jul;28(7):453-7. doi: 10.1136/jmg.28.7.453. J Med Genet. 1991. PMID: 1895315 Free PMC article. - Mapping of the X-linked recessive retinitis pigmentosa gene. A review.
Musarella MA. Musarella MA. Ophthalmic Paediatr Genet. 1990 Jun;11(2):77-88. doi: 10.3109/13816819009012951. Ophthalmic Paediatr Genet. 1990. PMID: 1974043 Review. - Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease.
Humphries P, Farrar GJ, Kenna P, McWilliam P. Humphries P, et al. Clin Genet. 1990 Jul;38(1):1-13. doi: 10.1111/j.1399-0004.1990.tb03541.x. Clin Genet. 1990. PMID: 2201466 Review.
Cited by
- Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1).
Hong HK, Ferrell RE, Gorin MB. Hong HK, et al. Am J Hum Genet. 1994 Dec;55(6):1173-81. Am J Hum Genet. 1994. PMID: 7977377 Free PMC article. - Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27 beta (DXS255).
Meitinger T, Fraser NA, Lorenz B, Zrenner E, Murken J, Craig IW. Meitinger T, et al. Hum Genet. 1989 Feb;81(3):283-6. doi: 10.1007/BF00279005. Hum Genet. 1989. PMID: 2921039 - Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.
Cremers FP, van de Pol DJ, Wieringa B, Collins FS, Sankila EM, Siu VM, Flintoff WF, Brunsmann F, Blonden LA, Ropers HH. Cremers FP, et al. Proc Natl Acad Sci U S A. 1989 Oct;86(19):7510-4. doi: 10.1073/pnas.86.19.7510. Proc Natl Acad Sci U S A. 1989. PMID: 2798422 Free PMC article. - Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci.
Chen JD, Halliday F, Keith G, Sheffield L, Dickinson P, Gray R, Constable I, Denton M. Chen JD, et al. Am J Hum Genet. 1989 Sep;45(3):401-11. Am J Hum Genet. 1989. PMID: 2570529 Free PMC article. - Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.
Ott J, Bhattacharya S, Chen JD, Denton MJ, Donald J, Dubay C, Farrar GJ, Fishman GA, Frey D, Gal A, et al. Ott J, et al. Proc Natl Acad Sci U S A. 1990 Jan;87(2):701-4. doi: 10.1073/pnas.87.2.701. Proc Natl Acad Sci U S A. 1990. PMID: 2300556 Free PMC article.