Scanning the Ocular Albinism 1 (OA1) Gene for Polymorphisms in Congenital Nystagmus by DHPLC

• Published in: Ophthalmic genetics Vol. 27; no. 2; pp. 43 - 49
• Main Authors: Sallmann, Georgina B., Bray, Paula J., Rogers, Sophie, Quince, Anne, Cotton, Richard G. H., Carden, Susan M.
• Format: Journal Article
• Language: English
• Published: England Informa UK Ltd 01.06.2006; Taylor & Francis
• Subjects: Albinism, Ocular - genetics; Chromatography, High Pressure Liquid - methods; Congenital nystagmus; DHPLC; Exons - genetics; Eye Proteins - genetics; Female; Genetic Testing; Humans; Male; Membrane Glycoproteins - genetics; Mutation; Nystagmus, Congenital - genetics; ocular albinism; polymorphism; Polymorphism, Genetic; Reverse Transcriptase Polymerase Chain Reaction; Sequence Analysis, DNA

Background: Nystagmus is common to all types of albinism. Some subjects with nystagmus lack convincing signs of albinism, have no other visual pathway disease, and are classified as possessing congenital idiopathic nystagmus (CN). It has been postulated that CN may be a form of ocular albinism. Meth...