Screening of the MERTK gene for mutations in Japanesepatients with autosomal recessive retinitis pigmentosa

[摘要] Purpose: To determine whether mutations in the MERTK gene arepresent in Japanese patients with autosomal recessive retinitispigmentosa (arRP).Methods: The coding sequence of all 19 exons and the adjacentflanking intron sequences of the MERTK gene were directly sequencedin 96 unrelated Japanese patients with arRP.Results: Seventeen sequence variants were found; six missensechanges, three isocoding changes, and eight intron changes were alsoobserved. One arRP patient had a novel homozygous Leu12Pro missensemutation in the MERTK gene.Conclusions: Mutations in the MERTK gene are relatively rare inJapanese patients with arRP.

[学科分类] 生物化学/生物物理