Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here, we report the case of a 6-year-old girl who showed partial trisomy of 11q and 22q, as a result of a maternal balanced reciprocal translocation (11;22), and exhibited dysmorphic features, severe intellectual disability, brain malformations, and speech delay related to ...

Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....

Background: The variable numbers of tandem-repeat (VNTR) alleles at the phenylalanine hydroxylase (PAH) gene have been used in carrier detection and prenatal diagnosis in phenylketonuria families. This study was carried out to analyze VNTR alleles at the PAH gene in Iranian Azeri Turkish population. Methods: In this study, 200 alleles from general population were studied by PCR. Results: The fr...

background staphylococcus aureus is a significant pathogen that can colonize the nares of different animals, causing a wide range of infections in various hosts. objectives we intended to determine the prevalence of s. aureus in the nasal cavity of healthy ruminants and also to investigate the presence of antibiotic resistance genes. materials and methods in the present study, healthy cattle (n...

introduction: endometriosis is a prevalent gynecological disorder among women which is diagnosed by the growth of endometrial tissue outside of uterus and is mainly accompanied by severe pelvic pain and infertility. p53 also known as cellular tumor antigen p53 inside codons 11, 72 and 248 are contained with single nucleotide changes in which tends to be nearly rampant.this will probably be incr...

amorpha-4,11-diene synthase (ads) is a key enzyme in biochemical pathway of the antimalarial agent artemisinin. an agrobacterium-mediated transformation was carried out to express a synthetic ads gene in green microalga chlamydomonas reinhardtii strain 125c with bacterial strains gv3101 and lba4404. the foreign gene was optimized based on codon usage bias of the microalga. integration of the ad...

The 11-cis-retinol dehydrogenase (11-cis-RoDH) gene encodes the short-chain alcohol dehydrogenase responsible for 11-cis-retinol oxidation in the visual cycle. The structure of the murine 11-cis-RoDH gene was used to reinvestigate its transcription pattern. An 11-cis-RoDH gene transcript was detected in several non-ocular tissues. The question regarding the substrate specificity of the enzyme w...

Background: Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause congenital bilateral absence of vas deferens. Yet, the spectrum and frequency of CFTR mutations in Indian males with congenital absence of vas deferens (CAVD) is unknown. Materials and Methods: We investigated 50 Indian males, diagnosed with unilateral or bilateral absence of vas deferens at t...

Phylogenetic relationships and genetic variation between two Iranian sheep breeds were analyzed using cytochrome b (cyt-b) gene sequences. The genomic DNA was isolated by salting out method and amplified cytochrome b gene using polymerase chain reaction restriction (PCR) method with a pair of primer. A partial sequence of cyt-b gene of Iranian sheep is 780 bp and contained 13 variable sites and...