ABSTRACT
Objective: Thalassemia is blood related disease which arises from the reduced level of hemoglobin in red blood cells [RBC], a protein responsible for carrying oxygen inside the body. Considering its widespread occurrence in developing countries like Pakistan, this study aims to investigate the common molecular anomalies of the beta thalassemia disease in district Charsadda, Khyber Pakhtunkhwa
Methods: This work was done at Abdul Wali Khan University [AWKU] Mardan, Khyber Pakhtunkhwa, Pakistan. The work was performed on the blood samples collected from the patients and their families with beta thalassemia major [n = 13 families] belonged to District Charsadda. The collected blood samples were analyzed for presence of six known mutations with the help of polymerase chain reaction technique i.e. amplification of refractory mutation system
Results: Our Study reports six known mutations [IVS-1-5, FSC 8/9, CD 41/42, IVS-1-1, CD 15 and FSC-5] accounting for about 90% of total beta thalassemia genes in this country. Among the reported mutations, IVS 1-5 was the most prevalent beta thalassemia gene in patients belonging to District Charsadda
Conclusion: The results and findings of the current study may help in accessing the frequency of these common mutations and in initiating pre-natal diagnosis programme in Pakistan
ABSTRACT
To characterize the disease causing mutation in a large consanguineous Pakistani family with severe Mal de Meleda [MDM] or keratosis palmoplantaris transgrediens, a rare autosomal recessive skin disorder. Single nucleotide polymorphism [SNPs] genotyping was performed using the GeneChip Mapping 250K array [Affymetrix]. Homozygosity mapping and sorting of genomic regions were performed with dedicated software called AutoSNPa. Selected regions were further investigated by genotyping with microsatellite markers derived from known and novel polymorphic repeats. Two-point LOD score calculation was performed by using the MLINK of Fastlink computer package. All three coding exons of ARS [component B] gene were amplified by PCR and sequenced. Sequencing of all the coding exons of ARS [component B] gene in the affected individuals revealed a recurrent missense mutation in exon 3 at base pair 256 from Guanine to Alanine [256G>A] and as a result the amino acid Glycine is replaced by Arginine at position 86 [G86R]. This finding will facilitate control of affected MDM births in the Pakistani families