Mostafa Saadat

[ 1 ] - Identification of Human Chromosome Segments that Have High Homology with Rat Genomic DNA

This study was conducted to determine the location of DNA segment with homology to the rat conserved genomic DNA in human chromosomes. The labeled rat genomic DNA was hybridized with normal human (male) metaphases. The study of 74 metaphases after fluorescence in situ hybridization showed 371 twin-spot signals on human chromosomes. Statistical analysis indicated that the specific accumulation o...

[ 2 ] - High Frequency of IVS10nt546 Linked to VNTR8 in Iranian PKU Patients from Fars Province

Dear Editor Analysis of the phenylalanine hydroxylase (PAH McKusick 261600) gene in different populations has revealed more than 320 different mutations associated with phenylketonuria (PKU). One of these mutations, IVS10nt546, results in severe PAH deficiency due to defective mRNA splicing. It accounts for about 40 percent of all mutant alleles in Turkish and between 10 to 20 percent of all mu...

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