Background: Recombination Activating Genes (RAG) mutated embryonic stem cells are (ES) cells which are unable to perform V (D) J recombination. These cells can be used for generation of immunodeficient mouse. Creating biallelic mutations by CRISPR/Cas9 genome editing has emerged as a powerful technique to generate site-specific mutations in different sequences. Ob...

identification of associated genes with energy balance, yield and feed intake are recent interests of the animal breeding researchers. najdi breed is the famous cattle breed in the khuzestan province. in this research for the investigation of leptin gene promoter ,from 15 najdi cows in the shushtar cattle center station was taken. dna from whole blood was extracted and 544bp and 566 bp two piec...

background objectives: the risk of adefovir dipivoxil resistance emergence has increased in lamivudine-resistant hepatitis b infected patients. the mutations known as causing adefovir resistance, rtn236t and rta181v/t, are detected within the d and b functional domain of the hbv polymerase, respectively. in this study, we intended to determine the pre-existing adefovir-resistance mutations in p...

fms-like tyrosine kinase-3 is a receptor tyrosine kinase expressed by immature hematopoietic cells and is important for the normal development of stem cells and the immune system. mutations of fms-like tyrosine kinase-3 have been detected in about 30% of patients with acute myelogenous leukemia and a small number of patients with acute lymphoblastic leukemia. the fms-like tyrosine kinase-3 muta...

Background: Congenital Adrenal Hyperplasia (CAH, the inherited inability to synthesize cortisol) is one of the most common (1 in 10000 to 1 in 15000) autosomal recessive disorders. More than 95% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD). Females with severe, classic 21-OHD are exposed to excess androgens prenatally and are born with virilized external genitalia. Most pati...

Mutations in the BRCA1 gene are known to be a major cause of hereditary breast cancer. However, characterizing the point mutationsassociated with cancer in BRCA1 is challenging because the functional impact of most of them is still unknown. Nowadays, a variety of methods are employed to identify cancer-associated mutations in BRCA1. This study is aimed to ass...

Background: Progressive familial intrahepatic cholestases (PFIC) are a spectrum of autosomal progressive liver diseases developing to end-stage liver disease. ATP8B1 deficiency caused by mutations in ATP8B1 gene encoding a P-type ATPase leads to PFIC1. The gene for PFIC1 has been mapped on a 19-cM region of 18q21-q22, and a gene defect in ATP8B1 can cause deregulations in bile salt transporters...