Wu  Li, Li  Pengcheng, Xing  Yiqiao, 
    <I>GUCY2D</I> Gene Mutation in a Family with Leber Congenital Amaurosis,
    Journal of Animal and Veterinary Advances,
    Volume 11,Issue 16,
    2012,
    Pages 2953-2956,
    ISSN 1680-5593,
    javaa.2012.2953.2956,
    (https://makhillpublications.co/view-article.php?doi=javaa.2012.2953.2956)
    Abstract: To detect and analyze <I>GUCY2D</I> gene mutations in a family with Leber Congenital Amaurosis (LCA) in China. Researchers collected peripheral blood samples from affected family members in three generations. Genomic DNA was extracted and all 20 exons of the <I>GUCY2D</I> gene were amplified using the DNA of the proband as the template. The ABI 3100 automated sequencer was used for sequencing. The sequencing results revealed one Single Nucleotide Polymorphism (SNP): c.154G.T (p.A52S) on exon 2 of the <I>GUCY2D</I> gene. The encoded amino acid changed from alanine to serine. All affected family members carried this SNP.
    Keywords: Leber congenital amaurosis;GUCY2D gene;disorder;physical signs;amino acid;template