Sana Fiaz¹, Maimoona Kousar¹, Muhammad Waqar Mazhar²*, Saira Saif ²and Wajeeha Iram²

¹Centre of Agricultural Biochemistry and Biotechnology, University of Agriculture Faisalabad
²Department of Bioinformatics and Biotechnology, Government College University,38000 Faisalabad

*Corresponding Author: Muhammad Waqar Mazhar, Department of Bioinformatics and Biotechnology, Government Collage University, Pakistan. E-mail: waqarmazhar63@gmail.com

Received: July 09, 2021; Published: November 10, 2021

Abstract

Beta-thalassemia is one of the most common autosomal recessive disorders worldwide. Prevention by carrier screening and prenatal diagnosis is needed in populations with high prevalence of the disease. Keeping this in mind, this study was aimed at analyzing βthalassemia disorder which is inherited in an autosomal recessive fashion through mutant alleles from parents to their children. Blood and fetal samples of two families were collected at MINAR hospital and sent to NIBGE. DNA was extracted from blood and CVS by phenol-chloroform method and quantified using Nanodrop. Then DNA was amplified by ARMS-PCR followed by horizontal gel-electrophoresis. Results showed the presence of two most prevalent beta-thalassemia mutations IVS 1-5 and FSC 8-9 in Pakistani families. Family A segregating β-thalassemia was found to have IVS 1-5 mutation and parents were carrier for this mutation. Fetal sample of Family A was homozygous of the parental mutation. FSC 8-9 was the mutation found in blood samples of Family B. Parents and fetus both were carriers of this mutation. Genetic testing and prenatal diagnosis can reduce the frequency of β-thalassemia disorders in Pakistan.

Keywords: Beta-thalassemia; ARMS-PCR; Human Genome Project; Mutations IVS 1-5 and FSC 8-9

References

1. Chang CT., et al. “Mixed Sequence Reader: A Program for Analyzing DNA Sequences with Heterozygous Base Calling”. The Scientific World Journal 10 (2012).
2. Aswini YB and Varun S. “Genetics in public health: Rarely explored”. Indian Journal of Human Genetics 16 (2010): 47-54.
3. Korf BR. “Genetics in medical practice”. Genetics in Medicine 4 (2002): 10S.
4. Kardia SL., et al. “Family-centered approaches to understanding and preventing coronary heart disease”. American Journal of Preventive Medicine 24 (2003): 143-151.
5. Khoury MJ. “Genetics and genomics in practice: The continuum from genetic disease to genetic information in health and disease”. Genetics in Medicine 5 (2003): 261.
6. Mahdieh N., et al. “Heterozygosity and allele frequencies of the two VNTRs (ApoB and D1S80) in Iranian population”. Indian Journal of Human Genetics 11 (2005): 31-34.
7. Mahdieh N and Rabbani B. "An overview of mutation detection methods in genetic disorders”. Iranian Journal of Pediatric 23 (2013): 375-388.
8. Marengo-Rowe AJ. “The thalassemias and related disorders”. Proc (Bayl Univ Med Cent) 20 (2007): 27-31.
9. Shakeel M., et al. “Investigation of molecular heterogeneity of beta-thalassemia disorder in District Charsadda of Pakistan”. Pakistan Journal of Medical Sciences 32 (2016): 491-494.
10. Galanello R and Cao A. “Alpha-thalassemia”. Genetics in Medicine 13 (2011): 83.
11. Yasmeen H., et al. “The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population”. European Journal of Medical Genetics 8 (2016): 355-362.
12. Ansari SH., et al. “Molecular epidemiology of βthalassemia in Pakistan: Far reaching implications”. Indian Journal of Human Genetics 18 (2012): 193-197.
13. Chial H. “DNA sequencing technologies; key to the Human Genome Project”. Nature Education 1 (2008): 219.

Citation

Citation: Muhammad Waqar Mazhar., et al. “Mutational Screening and Prenatal Diagnosis of β-thalassemia in Pakistani Families 5.12 (2021): 05-10.

Copyright

Copyright: © 2021 Muhammad Waqar Mazhar., 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.