dear editor-in-chief we read with interest the study by khazaei et al. (1) in which the authors have nicely concluded that pcr is more sensitive test than ziehl-neelsen staining and histo-pathological examination for the diagnosis of tuberculosis (tb). they have rightly pointed to use pcr, selectively, in acidfast bacilli negative paucibacillary forms of tb. however, we intend to highlight few ...

Background: Rifampicin resistant tuberculosis is a serious problem faced by control in China, and rapid detection of rifampicin resistance urgently needed. Objectives: This study aimed to describe the molecular characteristics frequency RNA polymerase β subunit (rpoB) gene mutations rifampicin-resistant (RR-TB) Anqing area. Methods: The rpoB fragment was amplified chain reaction (PCR), all isol...

perforin gene (prf1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (fhl), an immune disorder of infancy and early childhood. cytotoxic t and natural killer (nk) cell activities are remarkably reduced or ab-sent in fhl patients. we report the first cases of familial hemophagocytic lymphohistiocy-tosis in an iranian family with two siblings. e...

Background: Beta thalassemia is a common health problem in Iran especially in Northern provinces. Premarital screening for thalassemia is compulsory in Iran and identification of the carriers is based on primary CBC (Cell Blood Count) and hemoglobin electrophoresis. Silent mutations on β-globin gene have borderline or normal hematological indices that cannot be detected in premarital scree...

bacground: wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. the disorder is caused by mutations in the atp7b gene, encoding a copper transporting p-type atpase. characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families.materials and methods: we en...

Thalassemias are hereditary anemia syndromes occurring due to erroneous producing of globin chain of hemoglobin. Thalassemia syndromes are named according to the type of the affected globin chain. The most common types of thalassemia are alpha thalassemia and beta thalassemia. In α-thalassemia, α-globin chain production is either by decreased or completely disappeared. The gene encoding the α-g...

Background and Aims: One of the most important genes involved in Alzheimer's disease (AD) is the presenilin2 (PSEN2) gene, which is one of the main constituents of the gamma-secretase complex. Mutations in this gene promote the formation of amyloid plaques resulting in AD. The study aimed to evaluate the mutation variant in exon 6 of the PSEN2 gene in patients with Late-Onset AD (LOAD). Due to ...

objective: globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of dpy19l2 or mutations in spata16 and pick1 genes associated with globozoospermia. the aim of this study was to analyze the dpy19l2 gene deletion using polymerase chain reaction technique for t...

Abstract Twenty (25%) isolates of Proteus Mirabilis were isolated from a total 80 samples patients suffering otitis media and urinary tract infections. The collected various hospitals in Al-Diwaniyah city between December 2021 March 2022. was identified using cultural biochemical tests. diagnosis confirmed by polymerase chain reaction (PCR) to investigate the 16s rRNA gene, DNA sequencing regis...

background and aims. the aim of the present study is to determine the incidence of mthfr c677 t and a1298c mutations in iranian patients with cleft lip and/or cleft palate. materials and methods. we screened 61 iranian patients with cleft lip and/or cleft palate for mutations in the two alleles of mthfr gene associated with cleft lip and/or palate: a1298c and c677t, using polymerase chain react...