Background: Human β-defensin 126 is a small cationic glycoprotein that coats the plasma membrane of sperm during epididymal transit. It provides protection for sperms from infection-causing microbes and against the female immune system. Defensin remains on the sperm until sperm become capacitated in the female reproductive tract. DEFB126 gene is located on the subtelomeric end of 20p13 in human...

background: the present study was formulated in order to determine pol­ymorphism of dihydropteroate synthetase gene (dhps) of plasmodium vivax (p . vivax ) in hormozgan province, southern iran and mutations at codons 382, 383, 512, 553, and 585 associated with resistance of p. vivax to sulfadoxine. method : one-hundred eighteen isolates of p. vivax were prepared within 2007-2008 to determine di...

Background and Aim: Jaundice is a common disorder in neonates and one of the provable causes of glucose-6-phosphate dehydrogenase (G6PD) deficiency, some mutation types of which may be associated with severe neonatal icter. In this line, the present study has been conducted to compare G6PD mutations in incteric and non icteric neonates. Materials and Methods: This case-control study was imple...

beta thalassemia is the  most common autosomal recessive disorder. the present study reports a rare β globin gene mutation, hbb: c.180g>a: codon 59 (aag/aaa), in a patient from gilan province, northern iran. nucleotide sequencing of amplified dna belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a g>a conversion at the third position of codon 59 o...

objective: jaundice with indirect hyperbilirubinemia is one of the most common neonatal problems that occur in 60% of term and 80% of preterm neonates but the causes are mostly unknown. it is suggested that race plays an important role in the prevalence of hyperbilirubinemia. it is a common problem in iran that worries both parents and pediatricians. it has been found that a mutation in the ugt...

background: there are no data on the frequency and biochemical expression of the hemochromatosis associated mutations, c282y and h63d, in iranian adult population. this is the first study among iranians that may advocate a screening program. materials and methods: we investigated the frequency of the c282y/h63d hfe gene mutations in a group of 1029 randomly selected iranian blood donors as well...

conclusions we concluded from the results that the frequency of emb-resistant m. tuberculosis cases in iran is lower than that of many other regions. the pcr-sscp technique can separate resistant isolates from sensitive isolates. the sequencing results of this study showed mutation in codons 309 and 299 of the embb gene. in none of the resistant isolates, mutation was observed in codon 306. fur...

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...

objectives and background: mutation directed inactivation of the tumor suppressor gene p53 have been found incountries with high frequency for hepatocellular carcinomas (hccs). our goal in the present study was screening of the p53 gene in tumor tissues from hcc affected individuals in southwest iran for putative mutations in exons 7 and 8 that are known as hot spot regions. materials & met...