sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. according to the studies, mutations in gjb2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...

Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. According to the studies, mutations in GJB2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...

Background: HLA-G is a non-classical human leukocyte antigen expressed primarily in fetal tissues at the maternal-fetal interface. The unique structure of HLA-G molecule permits a restricted peptide presentation and allows the modulation of the immune system. There is now general agreement that HLA-G is an important immunotolerant molecule with the capability of inhibiting immune cell functions...

Genetic improvement programs may improve disease resistance in animal production. The best-characterized genetic control of disease resistance and immune response in animals is the one associated with the Major Histocompatibility Complex (MHC). The ovine lymphocyte antigenof DRB1 gene encodes cell surface glycoproteins that initiate immune responses by presenting processed antigenic peptides to...

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: wilson disease (wd) is caused by numerous pathogenic mutations of the atp7b gene. there are several mutation screening methods that can be used for the diagnosis and carrier detection of wd, however such methods are costly and time-consuming. therefore, other diagnostic methods should be used for urgent situations such as prenatal diagnosis. objective: to report common polymorphisms...

the toll-like receptor 4 (tlr4) is an innate immune protein on cell surfaces that identifies lipopolysaccharide (lps) of gram-negative bacteria. genetic markers associated with innate responses during mastitis could help in selection of cattle to improve disease resistance. the objective of this study was to determine the association between tlr4 gene and clinical mastitis, using selective geno...

severe congenital neutropenia (scn) is a rare primary immunodeficiency. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr. also, recently g6pc3 as a rare gene in scn has been reported. patients with g6pc3 often have cardiac and/or urogenital malformations. two patients with   persistent   severe   neutropenia,   recurrent   infections   and   maturatio...

diacylglycerol acyltransferase1 (dgat1) is a key enzyme in synthesis of triglycerides. a transition mutation resulting substitution of guanine by adenine in dgat1 gene and substitution of lysine by alanine in diacylglycerol-acyltransferase enzyme in cattle has a major effect on milk yield and milk composition traits. in this research, the polymorphism of the region spanning exon 3 to exon 17 of...