Biology and Medicine

Pooja S Chaudhary

Publications

• Research Article
  Whole Gene Sequencing Based Screening Approach to Detect β-Thalassemia Mutations
  Author(s): Spandan Chaudhary, Dipali Dhawan, Niraj Sojitra, Pushprajsinh Chauhan, Khyati Chandratre, Pooja S Chaudhary and Prashanth G BagaliSpandan Chaudhary, Dipali Dhawan, Niraj Sojitra, Pushprajsinh Chauhan, Khyati Chandratre, Pooja S Chaudhary and Prashanth G Bagali
  
  About 200 causative mutations are characterized in the β-globin gene. Beta thalassemia diagnosis is very complicated due to the genetic diversity of HBB gene across different geographical regions of the world. In the present study, we have analyzed 138 clinical specimens among them 66 were from 21 unrelated families (trio samples which had DNA from father, mother and chorionic villus sample/amniotic fluid sample) and 72 individual specimens using newly developed sequencing and PCR based assay. We observed 11 different HBB gene mutations in 138 samples, which were also cited by literature as the most prevalent mutations in Indian subcontinent population. The most common mutation observed in our study was HBB.C.92+5 G>C (GC+CC genotype was observed to be 44.93%). Few interesting case studies like co-inheritance of sickle cell anemia and β- thalassemia traits, compound heter.. View More»
  DOI: 10.4172/0974-8369.1000383

  Abstract PDF