A novel system for the rapid generation of precise DNA deletions.

A Novel Large-Scale Deletion of The Mitochondrial DNA of Spermatozoa of Men in North Iran

I-44: Mutagenesis during Embryogenesis

We developed several novel tools to genome wide screen for CNVs and SNPs in single cells. When applied to cleavage stage embryos from young fertile couples we discovered, unexpectedly, an extremely high incidence of chromosomal instability, a hallmark of tumorigenesis (Vanneste et al., Nature Medicine, 2009; Vanneste et al., Hum.Reprod., 2011). Not only mosaicisms for whole chromosome aneuploid...

Role of Mitochondria in Ataxia-Telangiectasia: Investigation of Mitochondrial Deletions and Haplogroups

Ataxia-Telangiectasia (AT) is a rare human neurodegenerative autosomal recessive multisystem disease that is characterized by a wide range of features including, progressive cerebellar ataxia with onset during infancy, occulocutaneous telangiectasia, susceptibility to neoplasia, occulomotor disturbances, chromosomal instability and growth and developmental abnormalities. Mitochondrial DNA (mtDN...

استفاده از مولتی پلکس PCR در شناسایی حذف های شایع ژن آلفاگلوبین در حاملین آلفا تالاسمی

Background and Aim:-thalassemia is the most common inherited disorder of hemoglobin (Hb) synthesis in the world. Alpha thalassemia most frequently results from the loss of one (- ) or both (- -) of the duplicated  genes () on chromosome 16. Carriers of deletional forms of -thalassemia (-/- /-, or --/) are clinically normal but have a mild hypochromic, microcytic anemia. C...

I-38: Chromosome Instability in The Cleavage Stage Embryo

Recently, we demonstrated chromosome instability (CIN) in human cleavage stage embryogenesis following in vitro fertilization (IVF). CIN not necessarily undermines normal human development (i.e. when remaining normal diploid blastomeres develop the embryo proper), however it can spark a spectrum of conditions, including loss of conception, genetic disease and genetic variation development. To s...