Population genetic analysis of the N-acylsphingosine amidohydrolase gene associated with mental activity in humans.

Population genetic analysis of N-acylsphingosine amidohydrolase gene associated with mental activity in humans

Molecular study of a consanguineous family with autosomal recessive mental retardation and speech disorder

Mental retardation (MR) is one of the most frequently found major genetic disorders around the world, affecting 1-3% of the people in the general population. The recent advancement in molecular biology and cytogenetic study has made possible the identification of new genes for a variety of genetic disorders including autosomal recessive MR. Recessive genetic disorders are common in Pakistan due...

P-70: Study of GTn-Repeat Expansion in Heme Oxygenase-1 Gene Promoter As Genetic Cause of Male Infertility

Background: The length of GT-repeats polymorphic region in the promoter of human Heme oxygenase-1 gene (HO-1) alters the level of its transcriptional activity in response to oxidative stresses. Decreased level of HO-1 protein in the seminal plasma has been reported to be associated with oligospermia and azoospermia in male infertility. This is the first study to investigate the association betw...

Screening for FecGH Mutation of Growth Differentiation Factor 9 Gene in Iranian Ghezel Sheep Population

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 (FecGH...

P-91: Androgen Associated Gene Polymorphism(s) in Women with Polycystic Ovary Syndrome from South Indian Population

Background: Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder affecting 4-12% of reproductive women worldwide; characterized by chronic anovulation, clinical and/or biochemical hyperandrogenism, and polycystic ovaries on ultrasound scan. Ovarian androgen overproduction is the key pathophysiologic feature of PCOS. A number of genes encoding major enzymes of the androgen meta...