Evaluation of running conditions for SSCP analysis: application of SSCP for detection of point mutations in the LDL receptor gene.

Detection of P 53 gene mutations in exons 5 and 8 in patients of familial breast cancer with PCR-SSCP methode.

 Background: Breast cancer is one of the most common cancer of women in the world.  Although different genetic alteration has been reported in this malignancy, but P 53 gene  mutations has more frequency. P 53 gene is one of the most important suppressor genes and it  play a central role in breast cancer and detecting of mutations in this gene would be very helpful in understanding of genetic m...

A Novel Mutation in Exon 4 of the Low Density Lipoprotein (LDL) Receptor Gene in an Iranian Familial Hypercholesterolemia Patient

Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in LDL receptor gene. The penetrance of FH is almost 100%, meaning that half of the offspring of affected parents born with disease. The patients are at risk of premature coronary heart disease (CHD). There is no report about the molecular basis of FH in Iran. Identification of mutat...

PCR-SSCP Analysis of Genetic Variation in DNMT Gene Family in Holstein Cattle

Members the DNA Methyltransferases (DNMT) gene family have been shown to play fundamental roles in regulating embryonic growth and development from embryonic fertilization to postnatal life; through regulating the establishment and/or maintenance of specific epigenetic marks. The present study was conducted to identify potential reported mutations within the exon 33 of DNMT-1, intron 4 of DNMT-...

Mutations in the rpoB Gene of Rifampin Resistant Myco-bacterium tuberculosis Isolated in Isfahan by PCR-SSCP

Identification of Two Novel Mutations in KDM3A Regulatory Gene in Iranian Infertile Males

Background: KDM3A is a key epigenetic regulator that is expressed in the testis and is required for packaging and condensation of sperm chromatin. To this point, the association of the KDM3A gene and infertility has not been studied in human. The aim of this study was to screen any new mutation in KDM3A gene to explore more details of human male infertility. Methods: In this work, 150 infertile...