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Xmn1 Polymorphism: A Silver Lining for β-Thalassemia Patients

Xmn1 Polymorphism: A Silver Lining for β-Thalassemia Patients

Saba Irshad*, Aruba Muhammad, Ammara Muazzam, Farah Sarfraz Anmol and Rehman Shahzad

Institute of Biochemistry and Biotechnology, University of the Punjab-54590, Lahore

*      Corresponding author: saba.ibb@pu.edu.pk

 

Fig. 1.

Agarose gel for RFLP analysis. Lane 1, 100bp ladder; Lanes 2-6, samples of B-thalassemia patients; Lanes 2 and 4-6, Xmn1 -/-; Lane 3, Xmn1 -/+.

Fig. 2.

Sequence alignment of (query) Xmn1 polymorphic β-thalassemia patient sample (GenBank KY927385) with the (subject) reported sequence of gamma globin gene retrieved from NCBI (GenBank: GU324926.1). Red outline indicates the transversion of C>T at position 158 bp upstream of the gamma-globin gene.

Fig. 3.

Sequence Chromatogram of Xmn1 polymorphic β-thalassemia patient at reference position 300 to 320. Black arrowhead indicates C>T transversion at 158 bp upstream of gamma globin gene.

Fig. 4.

Hypothetical illustration for increased gamma-globin gene expression by C>T polymorphism in the promoter region.

Fig. 5.

2 % agarose gel for RFLP analysis. Lane 1, contains 100bp ladder; Lanes 2-6, samples of β-Thalassemia patients; Lane 2, 418bp and 230bp of Xmn1 +/+ patient; Lanes 3-4, Xmn1 -/-; Lanes 5-6, no bands.

Pakistan Journal of Zoology

December

Vol. 50, Iss. 6, Pages 1999-2398

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