doi: 10.1007/BF00205174.
Cloning of the breakpoints of a deletion associated with choroidermia
Affiliations
- PMID: 1979308
- DOI: 10.1007/BF00205174
Item in Clipboard
Cloning of the breakpoints of a deletion associated with choroidermia
Hum Genet.
1990 Nov.
Abstract
In order to characterize a previously described submicroscopic deletion encompassing (part of) the choroideremia (tapetochoroidal dystrophy: TCD) gene, we have cloned a 10.5-kb EcoRI fragment from the patient's DNA; this fragment carries the junction between both deletion endpoints ("junction fragment"). The distal portion of this fragment defines a new marker within, or just distal to, the TCD gene. This marker has been employed to confirm the diagnosis in several affected family members, and to rule out carriership in a female at risk with conspicuous clinical signs.
Similar articles
-
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.Am J Hum Genet. 1990 Oct;47(4):622-8. Am J Hum Genet. 1990. PMID: 2220804 Free PMC article.
-
Linkage studies and deletion screening in choroideremia.J Med Genet. 1990 Aug;27(8):496-8. doi: 10.1136/jmg.27.8.496. J Med Genet. 1990. PMID: 1976814 Free PMC article.
-
Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis.Nucleic Acids Res. 1990 Feb 25;18(4):725-31. doi: 10.1093/nar/18.4.725. Nucleic Acids Res. 1990. PMID: 1969148 Free PMC article.
-
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.Am J Hum Genet. 1989 Oct;45(4):530-40. Am J Hum Genet. 1989. PMID: 2491012 Free PMC article.
-
Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.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.
Cited by
-
Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.Am J Hum Genet. 1992 Jun;50(6):1195-202. Am J Hum Genet. 1992. PMID: 1598901 Free PMC article.
-
A novel large multi-gene deletion in syndromic choroideremia.Ophthalmic Genet. 2024 Oct;45(5):546-550. doi: 10.1080/13816810.2024.2401850. Epub 2024 Sep 10. Ophthalmic Genet. 2024. PMID: 39257251 Review.
-
Taking Stock of Retinal Gene Therapy: Looking Back and Moving Forward.Mol Ther. 2017 May 3;25(5):1076-1094. doi: 10.1016/j.ymthe.2017.03.008. Epub 2017 Apr 5. Mol Ther. 2017. PMID: 28391961 Free PMC article. Review.
-
Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.Trans Am Ophthalmol Soc. 1992;90:405-79. Trans Am Ophthalmol Soc. 1992. PMID: 1494831 Free PMC article. No abstract available.
-
Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.PLoS One. 2009 Dec 22;4(12):e8402. doi: 10.1371/journal.pone.0008402. PLoS One. 2009. PMID: 20027300 Free PMC article.