Identification of Novel Mutations in IL-2 Gene in Khorasan Native Fowls

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...

Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients

Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB).  The enzymatic defect of ARSB leads to progressive lysosomal storage disorder and accumulation of glycosaminoglycan (GAG) dermatan sulfate (DS), which causes harmful effects on various organs and tissues an...

Identification of Mutations in G6PD Gene in Patients in Hormozgan Province of Iran

Growth Hormone Gene Polymorphism in Two Iranian Native Fowls (Short Communication)

Biochemical polymorphism study is a method of determination of genetic variation. This variability could be a basis for selection and subsequent genetic improvement in farm animals. The polymorphism in the intron 1 of chicken growth hormone (cGH) gene was investigated in the Iranian native fowls by using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method. The...

Novel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia

Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...

P-125: Identification of Novel Missense Mutations of The TGFBR3 Gene in Chinese Women with Premature Ovarian Failure

Background The aim of this study was to assess the ssociation between human transforming growth factor b receptor,type III (TGFBR3) and idiopathic premature ovarian failure (POF) in a Chinese population. MaterialsAndMethods A total of 112 Chinese women with idiopathic POF and 110 normal controls were examined. DNA samples prepared from blood leukocytes were used as templates for polymerase-chai...