Abstract Background Von Willebrand disease (VWD) is an autosomal recessive congenital bleeding disorder with deficiency or dysfunction of von Willebrand factor (VWF). The gene encoding for the VWF is located on chromosome 12, which is 178 Kb with 52 exons. Various mutations of this gene is responsible for the clinical features of VWD, but some single nucleotide polymorphisms make the molecu...

Objective: Diacylglycerol acyltransferase 1 is a microsomal enzyme that catalyzes the final step of triglyceride synthesis. The objective of this project is to check out the polymorphism at the exon 8 region of DGAT1 gene using PCR-SSCP technique in Iranian water buffaloes (Bubalus bubalis). Recent activities have shown that a significant association between lysine at amino acid positi...

: Mucopolysaccharidosis (MPS) is a rare and heterogeneous metabolic disorder with wide phenotypic distributions throughout the world. This study aimed to determine genetic polymorphisms, contributing most common types of MPS in 19 unrelated Iranian patients. The sequence coding region exon‐intron boundaries genes were analyzed by Sanger sequencing method. We used biochemical clinical characteri...

Udder performance and health are important traits in dairy cattle worldwide. The present study aimed to explore the association of single nucleotide polymorphisms (SNPs) STAT5B gene with milk mastitis related traits. included 201 cows three pure breeds (i.e. Holstein Friesian, Jersey Achai) two crossbred at four established farms Khyber Pakhtunkhwa, Pakistan. samples were analysed for somatic c...

background: hearing loss (hl) is the most frequent neurosensory impairment. hl is highly heterogeneous defect. this disorder affects 1 out of 500 newborns. this study aimed to determine the role of dfnb2 locus and frequency of myo7a gene mutations in a population from west of iran. methods: thirty families investigated in shahrekord university of medical sciences in 2014, genetic linkage analys...

We investigated mutations and polymorphisms of the coronary artery disease (CAD)-related myocyte enhancer factor 2A (MEF2A) gene in a Chinese population. Polymerase chain reaction-single-strand conformation polymorphism and DNA sequencing were used to detect exon 11 of the MEF2A gene in 210 Hubei patients with CAD and 190 healthy controls. The following mutations were identified: a) a synonymou...

Utilization of fecundity genes such as GDF9 and BMP15 can help improve reproductive traits in sheep breeding programme. To evaluate effects of missense mutations on protein function, the polymorphisms of GDF9 and BMP15 genes were screened in twelve mehraban sheep using DNA sequencing, followed by protein structure modeling. Six single nucleotide polymorphism (SNPs) known as FecG mutations (G1-G...

Intron-containing genes are generally expressed more effectively in human cells than are intronless versions of the same gene. We have asked whether this effect is due directly to splicing or instead reflects the action of components of the exon junction complex (EJC) that is assembled at splice junctions after splicing is completed. Here, we show that intron removal does not enhance gene expre...

 Abstract Background: Many disease susceptibility genes are large and consist of many exons in which point mutations are scattered throughout. Scanning each exon individually represents a tedious task which can be time consuming and expensive. There has been increasing demand for rapid and accurate methods for full scanning of unknown point mutations in large multi-exon genes. Gene Assembling i...