Background During spermatogenesis, the H2B family, member W (H2B.W) gene, encodes a testis specific histone that is co-localized with telomeric sequences and has the potential role to mediate the sperm-specific chromatin remodeling. Previously H2B.W genetic variants were reported to be involved in susceptibility to spermatogenesis impairment. In the present study, two single nucleotide polymorp...

meduiiary thyroid carcinoma (mtc) occurs both sporadically and in the autosomal dominantly inherited multiple endocrine neoplasia (men) type 2 syndromes. the distinction between true sporadic mtc and a new mutation familial case is important for future clinical management of both the patient and family. the susceptibility gene for hereditary mtc is the ret proto-oncogene. dna analysis for germl...

Cytochrome P450 (CYP) 2D6 is an important drug-metabolizing enzyme, and its gene is known to be highly polymorphic. Here, we report five novel nonsynonymous single nucleotide polymorphisms (SNPs), and 65 other sequence variations detected from the gene coding for cytochrome P450 (CYP) 2D6 in 254 Japanese subjects. Two of the novel nonsynonymous SNPs were associated with the *10 key SNP, C100T. ...

A single rat gene encodes both fibroblast TM-1 and skeletal muscle ~3-tropomyosin by an alternative RNAprocessing mechanism. The gene contains 11 exons: Exons 1-5 and exons 8 and 9 are constitutive exons common to all mRNAs expressed from this gene; exons 6 and 11 are used in fibroblasts as well as smooth muscle; exons 7 and 10 are used exclusively in skeletal muscle. We have studied the intern...

Analysis of RNA that can be labeled with GTP indicates the existence of group I introns in genes of at least three transcriptional classes in the genome of Staphylococcus aureus bacteriophage Twort. A single ORF of 142 amino acids (Orf142) is interrupted by three self-splicing group I introns, providing the first example of a phage gene with multiple intron insertions. Twort Orf142 is encoded i...

three species of l. tropica, l. major and l. infantum are known as main causal agents of leishmaniasis have been reported in iran. since cutaneous leishmaniasis (cl) is endemic in north east of iran, in the present work, 50 leishmania positive isolates from human cases in mashhad (center of razavi province, north east of iran), were genotyped by means of polymerase chain reaction-restriction fr...

Introduction: Alexander disease is a heterogenous group of diseases with various manifestations based on age of disease onset. This rare leukodystrophy syndrome with mutations in GFAP Gene could present with developmental delay and seizure in infantile form to ataxia and bulbar palsy in adulthood. However psychiatric symptoms are not well-defined and usually evaluate after disease diagnosis not...

Porcine beta-defensin-1 (PBD-1) gene plays an important role in the innate immunity of pigs. The peptide encoded by this gene is an antimicrobial peptide that has direct activity against a wide range of microbes. This peptide is involved in the co-creation of an antimicrobial barrier in the oral cavity of pigs. The objective of the present study was to detect polymorphisms, if any, in exon-1 an...