The use of multiplex ARMS-PCR for mutational analysis of beta-globin gene in consanguineous population of KP Pakistan

Purpose ß-thalassemia is a hereditary disorder due to mutation in the ß-globin gene on chromosome 11. Out of 200 known chain mutations recognized, it better identify most common specific regions and ethnicity for cost-effective molecular diagnosis this disorder. Therefore, study aims practice multiplex-amplification refractory system (ARMS) PCR patients with thalassemia Khyber Pakhtunkhwa (KP) investigate gene. Design/methodology/approach Twenty-two individuals (patients, their parents non-affected siblings) signed consent were studied from six consanguineous families ß-thalassemia. Blood samples collected DNA isolation. For detection gene, ARMS-PCR was used. The amplicon visualized through 2% Agarose Gel. Findings among different ethnic groups area residents Fr 8-9 (+G) IVS 1-5 (G> C). prominent enhancing factors are inter-family marriages lack awareness. Practical implications Multiplex ARMS_PCR valuable technique assessing multiple single reaction tube. Social Due extensively found regional variations high rate consanguinity, Pashtun population has great risk genome. mutational diagnostic strategy that can help control disease burden. Originality/value Limited studies using analysis conducted. This unique as targeted KP Pakistan.