hereditary inclusion body myopathy (hibm) is an adult-onset hereditary myopathy, usually with distal onset and quadriceps sparing. this myopathy is autosomal recessive and associated to upd-n-acetylglucosamine-2-epimerase/n-acetylmannosamine kinase (gne) gene mutations. in this study, we report a novel gne homozygous point mutation c.1834t>g that results in amino acid substitution of cysteine 6...

chronic granulomatous disease (cgd), a rare inherited primary immunodeficiency disorder,  is  caused  by  mutation  in  any  one  of  the  genes  encoding  components   of nicotinamide adenine dinucleotide phosphate (nadph)-oxidase enzyme. ncf2 gene (encoding p67-phox component) is one of them and its mutation is less common to cause cgd (around 5-6%). here, we assessed mutation analysis of ncf...

Background: DNA polymerase β (pol β) is a key enzyme of base excision repair pathway. It is a 1-kb gene consisting of 14 exons. Its catalytic part lies between exon 8 and exon 14. Exon 12 has a role in deoxyribonucleotide triphosphate selection for nucleotide transferase activity. Methods: Genomic DNA was isolated from ovarian carcinoma samples. Single strand conformation polymorphism...

Objective The presence of different missense mutations in sheep breeds have shown that the bone morphogenetic protein receptor 1B (BMPR1B), bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) genes play a vital role in ovulation rate and prolificacy in ewes. Therefore, the present study investigates BMPR1B, BMP15 and GDF9 genes mutations in prolific ewes of Iranian ...

Background: HLA-G, as a tolerogenic molecule, expressed in cytotrophoblast cells and playing an important role in the suppression of the immune response in maternal decidua. Today Interaction of the extracellular domains of HLA-G protein with cell receptors of immune system, including CD8, LILRB1, LILRB2 and killer cell immunoglobulin-like receptor KIR2DL4, was well known. Materials and Methods...

the purpose of the study was to detect the alui and ddei polymorphisms within pou1f1 gene exon 6 and 3'utr region in turkish sheep breeds, and their association with milk productive traits. jugular blood samples were collected from 50 sakiz, 50 white karaman, and 50 awassi sheep using edta as an anticoagulant. pcr-rflp and sequencing analysis were performed to investigate possible polymorphisms...

Background: HLA-G is a nonclassical HLA class I molecule which, when elevated in tumor cells, is one of the main factors involved in tumor evasion of immune responses including NK and T cells. Objective: To evaluate the effect of HLA-G downregulation on NK cell cytotoxicity in tumor cell lines. Methods: The expression level of HLA-G was measured by real-time PCR and flowcytometry after transfec...