Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that detects and degrades mRNAs containing premature termination codons (PTCs). SMG-1-mediated Upf1 phosphorylation takes place in the decay inducing complex (DECID), which contains a ribosome, release factors, Upf1, SMG-1, an exon junction complex (EJC) and a PTC-mRNA. However, the significance and the consequence of Upf1 phosphory...

background: acute myeloid leukaemia (aml) is a cancer of blood-forming cells in bone marrow. c-kit gene is a receptor tyrosine kinase class iii (rtk) that is expressed by early hematopoietic progenitor cells and plays an important role in hematopoietic stem cell proliferation, differentiation and survival. it is known that c-kit is a proto-oncogene and the activating c-kit mutations are likely ...

The intron-exon structure of Khorasan native fowl interleukin-2 (IL-2) was investigated. For this purpose, twenty chickens were selected from the Native Fowl Breeding Station of Khorasan province, and genomic DNA was extracted using a modified conventional DNA extraction protocol. An 875 bp fragment of IL-2 was successfully amplified, including a small part of the promoter, exon 1, intron 1, an...

Duchenne muscular dystrophy (DMD), the most common muscle degenerative disease, is an X-linked genetic disorder caused by loss or reduction of dystrophin protein, resulting in progressive wasting, and involving skeletal, cardiac, respiratory muscles. There currently no cure for DMD, anti-inflammatory steroid conventional treatment to delay disease progression. Recently, several therapeutic appr...

cystic fibrosis (cf) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (cftr) protein. the frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. the aim of this study was to perform a comprehensive analysis of the c...

 Background: Breast cancer is one of the most common cancer of women in the world.  Although different genetic alteration has been reported in this malignancy, but P 53 gene  mutations has more frequency. P 53 gene is one of the most important suppressor genes and it  play a central role in breast cancer and detecting of mutations in this gene would be very helpful in understanding of genetic m...

Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iran...

Background: Taqman one-step real-time PCR (RT-PCR) has special importance due to its high sensitivity and specificity in the diagnosis of infectious diseases such as viral infections. In recent pandemic SARS-CoV-2, diagnostic kits based on this method are commonly used for molecular detection. One main systematic errors that misinterpret results is using inaccurate internal control RT-PCR kits....

Familial adenomatous polyposis (FAP) is responsible for <1% of colorectal cancer (CRC) cases and is inherited as an autosomal dominant trait. Patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. Here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (APC) tumo...