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

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...

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Published inOphthalmic 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
LanguageEnglish
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
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Summary: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. Methods: The presence of nystagmus, iris transillumination, and visual acuity were recorded in 39 CN and albino patients and their families. Physical characteristics were also noted. DNA from buccal swabs was obtained for use in denaturing high performance liquid chromatography (DHPLC) and chemical cleavage of mismatch (CCM) to scan several hotspots for X-linked ocular albinism (OA1) mutations. Results: Two previously reported polymorphisms were confirmed: neither was found to be a causative mutation. Conclusion: No correlation was identified between nystagmus and OA1.
Bibliography:ObjectType-Article-1
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ISSN:1381-6810
1744-5094
DOI:10.1080/13816810600677834