PURPOSE Mutations in PAX6 are the major cause of aniridia. Only a few PAX6 mutations in Chinese have been reported. This study is to identify novel mutations in PAX6 of Chinese patients with aniridia. METHODS Aniridia patients were collected from 11 Chinese families, and genomic DNA was prepared from venous leukocytes. The coding regions of PAX6 were analyzed by direct sequencing of PCR produ...

Aim-To correlate immunohistochemical staining with single strand conformation polymorphism (SSCP) analysis of the p53 gene in colorectal cancer in order to understand how the findings provided by the two techniques complement each other in defining p53 functional status.Methods-Frozen tumour tissue from 94 patients with colorectal cancer was studied for p53 protein accumulation and gene mutatio...

The aim of the study was to develop a reliable and cost-effective method for detection nonsense mutation in APAF1 gene causing lethal effect called HH1 (Holstein Haplotype1) evaluate its prevalence sample Polish Holstein-Friesian bulls. One hundred seventy eight bulls born between 1996 2017 were included analysis. They kept four artificial insemination centers have pedigree known carrier HH1. A...

SSCP analysis is one of the most commonly used techniques for screening of small genetic alterations and a very convenient alternative to direct sequencing. In this technique, PCR products are denatured and electrophoresed on non-denaturing polyacrylamide gels. Any change in the sequence theoretically causes a shift in the mobility of the analysed conformers. However, it is known (1) that certa...

introduction: congenital long qt syndrome (lqts) is a cardiac disorder characterized by qt interval prolongation at basal ecg. different lqts genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. long qt syndrome type 6 (lqt6) is caused by mutation in the kcne2 gene. our research aimed to analyze genetic variants of kcne2 gene causing the disease in irania...

Toxin-producing Escherichia coli expressing F18 fimbriae colonizes the small intestines of weaned pigs and causes diarrhea, edema disease, or both. The F18 family is composed of two antigenic variants, F18ab and F18ac. Because many strains do not express F18 fimbriae in vitro, identification and differentiation of these two variants are difficult. Single-strand conformational polymorphism (SSCP...

background: ghezel sheep are highly prolific and one of the local sheep breeds in iran and turkey. growth differentiation factor-9 (gdf9) gene has been found to be essential for growth and differentiation of early ovarian follicles. novel mutations in gdf9 have been associated with increased ovulation rates and high litter sizes in heterozygous carriers. therefore, fecundity gene for gdf9 (fecg...

BACKGROUND Chronic HBV and HCV infections are the major risk factors for the development of HCC through a multistep pathway that involves viral and non-viral dependent pathophysiological steps. Hepatic expression of the nuclear proliferative marker ki-67 and the p53 oncoprotein were found to be associated with poor outcome. So, the present study was done to evaluate the changes in expression of...