TY  - JOUR
T1  - <I>GUCY2D</I> Gene Mutation in a Family with Leber Congenital Amaurosis
AU - Li, Wu AU - Pengcheng, Li AU - Yiqiao, Xing 
JO  - Journal of Animal and Veterinary Advances
VL  - 11
IS  - 16
SP  - 2953
EP  - 2956
PY  - 2012
DA  - 2001/08/19
SN  - 1680-5593
DO  - javaa.2012.2953.2956
UR  - https://makhillpublications.co/view-article.php?doi=javaa.2012.2953.2956
KW  - Leber congenital amaurosis
KW  -GUCY2D gene
KW  -disorder
KW  -physical signs
KW  -amino acid
KW  -template
AB  - 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.
ER  -