Background: This study aimed to assess the frequency determination of c.1115_1118delTTGG and c.3788_3790delTCT Fanconi's anemia A gene (FANCA) gene mutation in the North of Khyber Pakhtunkhwa (KPK) Pakistan Fanconi’s Anemia Population. Materials and Methods: A cross-sectional study was conducted at Khyber Medical University, Peshawar, Pakistan. For the Exon 13 mutation c.1115_1118delTTGG, the ...

background the x-linked cyclin-dependent kinase like 5 (cdkl5/stk9) gene has been shown to be responsible for a severe encephalopathy condition characterized by early onset of epilepsy and severe developmental delay. cdkl5 mutations have been shown to be more frequent among female patients. results here we report a 6- month male patient, second child of a healthy non consanguineous in the irani...

This study was conducted in order to investigate the association between the single nucleotide polymorphism (SNP) rs2305957 G/A and recurrent pregnancy loss (RPL) in a group of Palestinian women residing in Gaza strip. A retrospective case-control study was carried out during the period of May to August 2015. A total of 380 females including 190 recurrent pregnancy loss (RPL) patients and 190 c...

Background:  Atorvastatin is prescribed for the primary and the secondary prevention of coronary artery diseases. A wide variation in inter-individual statin response suggests that genetic differences may contribute to this variation. This study investigated the association of ABCB1 (C3435T) and ABCC1 (G2012T) polymorphisms with clinical response to atorvastatin in Iranian primary hyperlip...

BACKGROUND Mutations of the epidermal growth factor receptor (EGFR) gene in non-small-cell lung cancer (NSCLC) patients predict the patients who will respond to EGFR tyrosine kinase inhibitor (TKI) treatment. A recent study has suggested that 33% of NSCLC showed primary tumor/metastasis discordance of EGFR expression by immunohistochemistry analysis. We intended to find out whether the EGFR mut...

Objective: this study aims to develop a methodology for detecting mutations in the K13 gene and determine mutation frequencies clinical samples. Method: total DNAs were extracted blood samples collected from 50 patients failure with artemisinin treatmentin Central Highlands region. A fragment of was amplified, purified, sequenced by Sanger method. The sequences analysed using Bioedit aligned re...

introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...

Effects of induced mutation via gamma irradiated with 250 Gy dose (in Nuclear Agriculture Research School- Nuclear Science and Technology Research Institute) on Trichoderma harzianum conidiaon chitinase activity by STS molecular marker have been evaluated in this study. Among 20 irradiated mutants which selected via improved antagonistic capability against Rhizoctonia sola...