遺伝障害と遺伝レポートのジャーナル

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

Kathirvel Renugadevi, John Asnet Mary, Vijayalakshmi Perumalsamy, Suresh Seshadri, Sujatha Jagadeesh, Beena Suresh, Sheela Nampoothiri, Rajaiah Shenbagarathai, Sankaran Krishnaswamy and Periasamy Sundaresan

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.