Screening of Wilson's Diseases Effect on the Brain at Exon 8
Jhansi Konduru, Gayatri Madiya
Affiliation
- 1Department of Biochemistry, Dr. L.Bullayya College, Andhra University, Visakhapatnam, India
- 2Department of Organic Chemistry (Drugs), K.V.B.R.R. College for Women, Osmania University, Hyderabad, India
Corresponding Author
Vanita Pudata, Department of Biochemistry, Dr. L.Bullayya college, Andhra University, Visakhapatnam, India, Tel: +91-9985924242; E-mail: vani.vnt1@gmail.com
Citation
Vanita, P., et al. Screening of Wilson’s Diseases and effect on the Brain at Exon 8. (2015) Int J Neurol Brain Disord 2(1): 1-15.
Copy rights
©2015 Vanita P. This is an Open access article distributed under the terms of Creative Commons Attribution 4.0 International License.
Keywords
Abstract
Wilson disease (WD) is an autosomal recessive disorder caused by defects in ATP7B gene located on chromosome 13q21.1, and manifested as Hepatolenticular degeneration as a result of accumulation of copper. A total number of 20 control samples were taken for studying the mutations in exon 8. Genomic DNA was prepared from the peripheral blood of the patients. The exon 8 was amplified by PCR using primers. Amplified DNA fragments were analyzed by Agarose gel electrophoresis. Further the patient PCR DNA products will be subjected to Restriction analysis. The results in all controls did not reveal any mutation in the exon 8 of the gene.