conclusions in conclusion, chit1 24 bp duplication might not be a candidate gene for susceptibility to ptb. larger studies are necessary to confirm these findings in various populations. results homozygous wild type, heterozygous and homozygous mutant frequencies of chit1 24 bp duplication polymorphism were 43.9%, 43.9% and 12.2% in controls and 42.8%, 45.1% and 12.1% in ptb patients. we found ...

R2R3-MYB TFs represent one of the most extensive gene families in plants and play a crucial role regulating plant development, metabolite accumulation, defense responses. Nevertheless, there has been no systematic investigation into pomegranate family. In this study, 186 genes were identified from genome grouped 34 subgroups based on phylogenetic analysis. Gene structure analysis showed that Pg...

duchenne muscular dystrophy (dmd) and becker muscular dystrophy (bmd) can be caused by deletions, duplications or point mutations in the dmd gene that encodes dystrophin. partial gene duplications account for up to 5-10 % of dmd and up to 5- 19% of bmd cases. cases with gene duplication in dmd/bmd are determined by quantitative methods such as maph, sothern blotting and q-pcr that are laborious...

introduction: duchene/ becker (dmd/bmd) muscular dystrophy is the most frequent neuromuscular disease in children which is inherited as an x-linked recessive trait. the disease is caused by partial deletion in dystrophin gene. we developed a rapid and robust method for direct identification of female carriers of deletions and duplications in the dystrophin gene, in order to prevent the affected...

The WRKY gene family encodes a large group of transcription factors that regulate genes involved in plant response to biotic and abiotic stresses. Sorghum is a notable grain and forage crop in semi-arid regions because of its unusual tolerance against hot and dry environments. We identified a set of 85 WRKY genes in the S. bicolor genome and classified them into three groups (I–III). Among the ...

duchenne muscular dystrophy (dmd) and becker muscular dystrophy (bmd) can be caused by deletions, duplications or point mutations in the dmd gene that encodes dystrophin. partial gene duplications account for up to 5-10 % of dmd and up to 5- 19% of bmd cases. cases with gene duplication in dmd/bmd are determined by quantitative methods such as maph, sothern blotting and q-pcr that are laborious...

purpose: to report a case who had optic disc duplication, a rare congenital disorder characterized by two well-defined discs in one eye. case report: a 19 months-old child presented with unilateral epiphora in the right eye since birthday. the right eye was smaller than the left eye and mild ptosis was apparent. nasolacrimal duct probing was performed under general anesthesia. the examination r...