Purchase this article with an account.
Carlo Rivolta, Giulia Venturini, Shyana Harper, Hanna Koskiniemi, Eliot Berson; A 353-bp Alu insertion in MAK is a prevalent cause of recessive retinitis pigmentosa in North American Jewish patients. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1315.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
A 353-bp Alu insertion in exon nine of male germ cell-associated kinase (MAK) gene was previously shown to be a cause of autosomal recessive retinitis pigmentosa (arRP), with a prevalence of 1.2% within a large cohort of unrelated patients. All of the carriers of the homozygous insertion were of Jewish ancestry. Our aim was to ascertain the prevalence of this mutation in a group of North American patients with arRP and of Jewish ancestry, compared with a cohort of patients of mixed ethnicity.
Patient sets included 82 unrelated individuals with arRP and of Jewish ancestry, assessed from a questionnaire, and a group of 190 arRP patients of mixed ethnicity (mostly Caucasians). DNA from peripheral leukocytes was extracted and used as template for PCR amplifications. PCR produces were then analyzed by agarose gel electrophoresis and Sanger sequencing.
The homozygous Alu-element insertion in exon nine of MAK was identified in 9 out of 82 patients (~11%) of Jewish ancestry and in 4 out of 190 patients (~2%) of mixed ethnicity. These 4 latter positive individuals reported generic East European origin.
Our data indicate that a single mutation in the MAK gene is responsible for arRP in a large fraction of North American Jewish patients, while being a relatively rare occurrence in other Caucasians individuals with the same disease.
This PDF is available to Subscribers Only