title: Isolation of a candidate gene for choroideremia.
abstract: Choroideremia is an X chromosome-linked retinal dystrophy of unknown pathogenesis. We have isolated cDNAs from a human retinal library with a genomic probe located at the X chromosomal breakpoint in a female with choroideremia and an X;13 translocation. This cDNA spans the breakpoint in the X;13 translocation female and is deleted in males who have choroideremia as part of a complex phenotype including mental retardation and deafness. However, this cDNA detects no alterations in the DNA of 34 males with isolated choroideremia. Nonetheless, the cDNA does detect reduced or absent levels of mRNA in three-quarters of male patients with an apparently intact gene. These data support the hypothesis that this cDNA represents the gene in which mutations cause choroideremia.
authors.affiliation: Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104.
authors.forename: D E
authors.initials: DE
authors.lastname: Merry
authors.forename: P A
authors.initials: PA
authors.lastname: Jänne
authors.forename: J E
authors.initials: JE
authors.lastname: Landers
authors.forename: R A
authors.initials: RA
authors.lastname: Lewis
authors.forename: R L
authors.initials: RL
authors.lastname: Nussbaum
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015139:Blotting, Southern; D002460:Cell Line; D015794:Choroideremia / Q000235:genetics*; D016386:Chromosome Walking; D004247:DNA / Q000235:genetics* / Q000302:isolation & purification; D005260:Female; D015723:Gene Library; D005796:Genes; D006822:Hybrid Cells; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction / Q000379:methods; D012333:RNA, Messenger / Q000032:analysis / Q000235:genetics; D012016:Reference Values; D015183:Restriction Mapping; D014960:X Chromosome
chemical_list: D009838:Oligodeoxyribonucleotides; D012333:RNA, Messenger; D004247:DNA