the androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. the primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. this prevents normal androgen action and thus leads to impaired virilization. a point m...

background and aims: lamivudine is amongst the antiviral for drug chronic hepatitis b treatment. during therapy with lamivudine, variants may emerge with ymdd mutation in the reverse transcriptase (rt) region of polymerase gene. this mutation might have a role in drug resistant for hbv. materials and methods: hbv dna extraction from serum sample of 88 patients, were subjected to nested pcr for ...

In recent theoretical and experimental work on schemata in genetic programming we have proposed a new simpler form of crossover in which the same crossover point is selected in both parent programs. We call this operator one-point crossover because of its similarity with the corresponding operator in genetic algorithms. One point crossover presents very interesting properties from the theory po...

background: this study investigated the association between pfcrt, t76 allele and chloroquine resistance in patients with falciparum malaria. molecular assays for point mutations on drugs resistance-related genes are applied tools for monitoring emerging resistance and surveillance malaria control strategies in endemic areas. the mutant genotype at codon 76 of plasmodium falciparum chloroquine ...

Abstract Objective JAK2 is a non-receptor tyrosine kinase that plays a major role in myeloid disorders. JAK2V617F mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. Methods In this study we evaluated RNA from 89 pati...

background antibiotic resistance is a major therapeutic problem in patients infected with helicobacter pylori. h. pylori clarithromycin resistant mutants have been evolved during antibiotic therapy, this is mainly due to 23s rrna point mutations. objectives in the present study, we investigated anti-mutational features of four traditionally iranian medicinal plants on three local isolated h. py...

Beta-thalassemia is one of the most common autosomal recessive disorders in the world population resulting from over 200 different mutations of HBB gene. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the HBB gene leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). High-resolution melting of polymerase chain reaction (PCR)...

background: despite the genetic heterogeneity reported in familial als (fals), sod1 gene mutations are the most frequent cause of fals, accounting for around 20% of familial cases (als1) and isolated sporadic cases. mutant forms of sod1 exhibit toxicity that promotes the death of motor neurons. it is well documented that fals produces protein aggregates in the motor neurons of fals patients, wh...