Efficient DNA carrier detection in X linked juvenile retinoschisis.
نویسندگان
چکیده
Juvenile retinoschisis is a rare, X linked hereditary vitroretinal degeneration. Female carriers of the disease do not develop any ocular abnormalities. Therefore, carrier detection by DNA analysis is extremely useful for these females. In order to evaluate the usefulness of a new class of DNA markers for carrier detection in X linked juvenile retinoschisis, DNA carrier detection or carrier exclusion was carried out in four possible carriers for X linked juvenile retinoschisis. The use of these highly polymorphic CA repeats, closely linked to the RS gene, greatly enhances both the reliability and feasibility of carrier detection in X linked juvenile retinoschisis.
منابع مشابه
Mutations in the RS1 gene in a Chinese family with X-linked juvenile retinoschisis.
The purpose of our study was to identify the mutations in the retinoschisis 1 (RS1) gene, which was associated with X-linked retinoschisis (XLRS) in a four-generation Chinese family, and to provide the theoretical basis for gene diagnosis and gene therapy. Genomic DNA was extracted from peripheral leukocytes. All six exons and flanking intronic regions were amplified by polymerase chain reactio...
متن کاملR213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family
PURPOSE We identified a large Chinese family with X-linked juvenile retinoschisis. The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene. METHODS Family history was collected and all family members underwent routine ophthalmic examination. Venous blood was collected from family members and g...
متن کاملClinical and molecular characterization of females affected by X-linked retinoschisis.
BACKGROUND X-linked retinoschisis (XLRS) is a leading cause of juvenile macular degeneration associated with mutations in the RS1 gene. XLRS has a variable expressivity in males and shows no clinical phenotype in carrier females. DESIGN Clinical and molecular characterization of male and female individuals affected with XLRS in a consanguineous family. PARTICIPANTS Consanguineous Eastern Eu...
متن کاملMutational Screening of RS1 gene in X-linked Retinoschisis in an South Indian Family
Purpose: To screen XLRS1 gene for genetic mutations and describe the ocular phenotypes in an X-Linked retinoschisis family. Methods: Ophthalmic examination, including best-corrected visual acuity, fundus photography, Ocular Coherence Tomography/Scanning Laser Ophthalmoscopy (OCT/SLO) and full-field Electroretinography (ERG) was performed in the family. Pedigree was obtained and peripheral blood...
متن کاملUse of topical dorzolamide for patients with X-linked juvenile retinoschisis: case report.
X-linked juvenile retinoschisis (XLRS) is a recessively inherited vitreoretinal degeneration characterized by macular pathology and splitting of the neuroretinal layers that is associated with alterations in the XLRS1 gene. There have been no therapeutic interventions known to be effective for patients with X-linked juvenile retinoschisis, but some studies are trying to determine the importance...
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ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 79 7 شماره
صفحات -
تاریخ انتشار 1995