Primary ovarian insufficiency (POI) can be a devastating disease impacting women below the age of forty. This involves a major decrease in the amount and quality of oocytes, or ovarian reserve in a woman. The distribution of single-nucleotide polymorphisms, rs10407022 and rs3741664, in Iraqi people and its association with primary ovarian insufficiency is the main objective of this study. The m...

The aim of this study was to investigate whether the rs12255372 (TCF7L2) and D76N (PDX-1) polymorphisms are associated with type 2 diabetes mellitus (T2DM) in Mashhad, northeast Iran. A hundred twenty seven patients with T2DM and 71 non-diabetic controls in Mashhad were genotyped by PCR-RFLP and ARMS-PCR methods. Single nucleotide polymorphisms (SNPs) were confirmed by sequencing in some sample...

Concerning the key role of interferon-γ (IFN-γ) in the protective immunity against Mycobacterium tuberculosis, we aimed to find the possible association between single nucleotide polymorphism of IFN-γ +874T/A (rs61923114) and pulmonary tuberculosis (PTB). This case-control study was performed on 142 PTB patients and 166 healthy subjects. Genotype analysis was done using amplification refractory...

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...

Evaluation of a single nucleotide polymorphism (SNP) and single nucleotide mutation in cancer patients and other diseases is crucial for genotypic characterization in order to select therapy and genetic counseling. The study aim is to develop and optimization for the detection of miR-146a gene rs2910164 C/G polymorphism in breast cancer. Tetra-primer Amplification Refractory Mutation System (T-...

Interleukin-18 (IL-18) plays a critical role in immune response, contributing to the pathogenesis and pathophysiology of infectious diseases. Polymorphisms in the IL-18 genes are known to influence expression levels and may be associated with outcome of infections. The objective of this study was to determine whether the presence of IL-18 polymorp...

The Delta variant of SARS-CoV-2 dominated the COVID-19 pandemic due to its high viral replication capacity and immune evasion, causing massive outbreaks cases, hospitalizations, deaths. Currently, identification is performed mainly by sequencing. However, requirements for equipment operators as well cost have limited application in underdeveloped regions. To achieve an economical rapid method s...

Mouse models are widely employed to study mitochondrial inheritance, which have implications to several human diseases caused by mutations in the mitochondrial genome (mtDNA). These mouse models take advantage of polymorphisms between the mtDNA of the NZB/BINJ and the mtDNA of common inbred laboratory (i.e., C57BL/6) strains to generate mice with two mtDNA haplotypes (heteroplasmy). Based on PC...

results using these two sets, we identified h1069q mutation in four patients, c.2335t > g mutation in three, c.3061-1g > a splice site mutation in five, c.3305t > c mutation in one, and c.3809a > g mutation in two patients. conclusions the multiplex arms assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with wilson disease. patien...