GENETIC ANALYSIS OF ALPORT SYNDROME: A CASE STUDY

@inproceedings{Qureshi2015GENETICAO,
  title={GENETIC ANALYSIS OF ALPORT SYNDROME: A CASE STUDY},
  author={Asif Mehmood Qureshi and Safdar Sidra and Shaher Yar Hassan},
  year={2015}
}
Alport syndrome is a genetic condition characterized by glomerulonephritis, end stage kidney disease, hearing loss and can also affect the eyes. This project was undertaken to determine the mode of inheritance and nature of the mutation responsible for Alport syndrome in a family whose two individuals were affected. The mode of inheritance was determined with the help of data which was probably autosomal recessive in this case. The mutation responsible for Alport syndrome lies on chromosome # 2… CONTINUE READING