Linkage studies and deletion screening in choroideremia.
نویسندگان
چکیده
Fourteen families with choroideremia (TCD) have been examined for linkage to nine genetic markers located on the proximal long arm of the X chromosome. Linkage to three markers (DXYS1, DXS72, DXS3) located in Xq21 was found with a four point lod score of 8.25. No evidence of submicroscopic deletions was observed using DXS233 and DXS232, both thought to lie within about 1 Mb of the TCD gene.
منابع مشابه
Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia
Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroret...
متن کاملA Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice
Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder is caused by mutations in the CHM gene encoding REP-1 protein, an essential component of the Rab geranylgeranyltransferase (GGTase) complex. In the present study, we evaluated a multi-technique analysis algorithm to describe the mutational spectrum identified in a larg...
متن کاملMolecular genetics of inherited eye disorders.
In the past 10 y, there have been considerable advances in the mapping, isolation, and characterization of many genes for important ocular conditions: retinitis pigmentosa, Norrie disease, Waardenburg syndrome, choroideremia, aniridia, retinoblastoma, and others. The candidate gene approach has now supplemented classical linkage studies and positional cloning in the investigation of ocular diso...
متن کاملClinical and functional findings in choroideremia due to complete deletion of the CHM gene.
OBJECTIVE To report the clinical, functional, and in vivo microanatomic characteristics of a family with choroideremia with a deletion of the entire gene that encodes for the Rab escort protein 1 (CHM). METHODS We performed clinical examination, flash electroretinography (ERG), light- and dark-adapted perimetry, and optical coherence tomography; reviewed medical records; and obtained the medi...
متن کاملYeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.
Microscopically detectable deletions and X;autosome translocations have previously facilitated the construction of a high-resolution interval map of the Xq21 region. Here, we have generated three yeast artificial chromosome contigs spanning approximately 7 megabases of the Xq13.3-q21.31 region. In addition, a novel deletion associated with choroideremia and mental retardation was identified and...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 27 8 شماره
صفحات -
تاریخ انتشار 1990