Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Research Article, J Genet Disor Genet Rep Vol: 3 Issue: 2

Molecular Genetic Testing for Carrier - Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1

Kathirvel Renugadevi1, John Asnet Mary2, Vijayalakshmi Perumalsamy3, Suresh Seshadri4, Sujatha Jagadeesh4, Beena Suresh4, Sheela Nampoothiri5, Rajaiah Shenbagarathai2, Sankaran Krishnaswamy6 and Periasamy Sundaresan1*
1Department of Genetics, Dr. G.Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamil Nadu, India
2PG and Research, Department of Zoology and Biotechnology, Lady Doak College, Madurai, Tamil Nadu, India
3Paediatric Clinic, Aravind Eye Care System, Aravind Eye Hospital, Madurai, Tamil Nadu, India
4Department of Clinical Genetics, Mediscan Systems, Chennai, Tamil Nadu, India
5Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India
6Centre of Excellence in Bioinformatics, School of Biotechnology, Madurai Kamaraj University, Madurai, Tamil Nadu, India
Corresponding author : Dr. Sundaresan P
Senior Scientist, Department of Genetics, Dr. G.Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, No-1, Anna Nagar, Madurai, Tamil Nadu, India
Tel: 91 452 4356100; Fax: 91 452 2530984
E-mail: [email protected]; [email protected]
Received: March 05, 2014 Accepted: June 19, 2014 Published: June 26, 2014
Citation: Renugadevi K, Mary JA, Perumalsamy V, Seshadri S, Jagadeesh S, et al. (2014) Molecular Genetic Testing for Carrier - Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1. J Genet Disor Genet Rep 3:2. doi:10.4172/2327-5790.1000117

Abstract

Molecular Genetic Testing for Carrier- Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1

In India epidemiological-communicable diseases are on the decline due to better living conditions and healthcare delivery in the society. On the other hand, the relative increase in the prevalence of genetic diseases threatens to be a public health problem. One such group of metabolic disorder is Albinism. General population based oculocutaneous albinism (OCA) carrier screening is controversial in all the races. Because of the occurrence of this disease in prior generations, it is necessary to create the knowledge, so that even uneducated affected family members will be willing to diagnose the disease status. As a result, the carrier detection in general population has become necessary in Indian population.

Keywords: Oculocutaneous albinism I, Molecular testing, Carrier detection; Prenatal diagnosis; Human Tyrosinase; Homology Modeling; Ramachandran plot; Hydrophobicity.

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