alexa Whole Gene Sequencing Based Screening Approach to Detect β-Thalassemia Mutations
ISSN: 0974-8369

Biology and Medicine
Open Access

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Research Article

Whole Gene Sequencing Based Screening Approach to Detect β-Thalassemia Mutations

Spandan Chaudhary*, Dipali Dhawan, Niraj Sojitra, Pushprajsinh Chauhan, Khyati Chandratre, Pooja S Chaudhary and Prashanth G Bagali*

Xcelris Labs Ltd., Old Premchand Nagar Road, Bodakdev, Ahmedabad, Gujarat, India

*Corresponding Author:
Prashanth G Bagali
Xcelris Labs Ltd., Old Premchand Nagar Road
Bodakdev, Ahmedabad, Gujarat, India
Tel: +91-79-66197777, 66092177
Fax: +91-79-66309341
E-mail: [email protected]
Spandan Chaudhary
Xcelris Labs Ltd.
Old Premchand Nagar Road
Bodakdev, Ahmedabad, Gujarat, India
Tel: +91-79-66197777, 66092177
Fax: +91-79-66309341
E-mail: [email protected]

Received Date: January 20, 2017; Accepted Date: February 27, 2017; Published Date: March 06, 2017

Citation: Chaudhary S, Dhawan D, Sojitra N, Chauhan P, Chandratre K, et al. (2017) Whole Gene Sequencing Based Screening Approach to Detect β-Thalassemia Mutations. Biol Med (Aligarh) 9: 383. doi:10.4172/0974-8369.1000383

Copyright: © 2017 Chaudhary S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.

 

Abstract

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 heterozygosity of beta thalassemia major mutation in the case of twin pregnancy were also focused briefly. Commercially available molecular diagnostic kits of HBB gene can detect and identify targeted mutations but will not detect novel and non-targeted mutations of beta thalassemia in parental blood and fetal samples. Hence, a screening technique involving complete sequencing of HBB gene (β-globin gene) is required along with gap PCR approach to provide complete diagnosis of beta thalassemia disease.

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