Prenatal diagnosis is essential in the new era of diagnosis and management of genetic diseases in obstetrics. Multiple ligation-dependent probe amplification (MLPA) is a recent technique for prenatal diagnosis for the relative quantification of 40 different nucleic acid sequences in one single reaction. We had utilized the MLPA technique in detecting aneuploidies in amniotic fluid samples from ...

Abstract Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of molecular heterogeneity and complexity affected imprinted regions. An integrated approach to analyze epigenetic-genetic alterations required accurate diagnosis BWS. Case presentation : We reported a Chinese case with BWS detected by SNP array ana...

Background: β-thalassemia is one of the most widespread disease in the world, including Iran. In this study, we reported, for the first time, A 290-bp β-globin gene deletion in the south of Iran. Methods: Four individuals from three unrelated families with Arabic ethnic background were studied in Khuzestan Province. Red blood cell indices and hemoglobin analysis were carried out accor...

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...

charcot-marie-tooth (cmt) is the commonest neurogenetic disorder with phenotypic and genotyping heterogeneity. cmt1a encompasses approximately 60% of all types of cmt and has ad inheritance. cmt1a maps to chromosome17 p11.2 and is majorly caused by 1.5 mb dna duplication that includes the peripheral protein 22 (pmp) genes. the severity, onset and progression of cmt1a vary markedly within and be...