sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. according to the studies, mutations in gjb2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...

Mutation analysis in the mitochondrial DNA (mtDNA) control region is widely used in population genetic studies as well as in forensic medicine. Among the difficulties linked to the mtDNA analysis, one can find the detection of heteroplasmy, which can be inherited or somatic. Recently, age-related point mutation A189G was described in mtDNA and shown to accumulate with age in muscles. We carried...

Cancer research samples often contain rare amounts of somatic mutations within a high background of normal wild type DNA. Many mutation detection methods compatible with tumor specimens, including gene sequencing and real-time PCR, have been reported in the literature and are commercially available. However, commercially available kits have various limitations in terms of sensitivity, specifici...

introduction: mucopolysaccharidosis i (mps-i) is an autosomal recessive lysosomal storage diseases, caused by α-l-iduronidase (idua) enzyme deficiency. the clinical manifestations of mps-i patients are variable ranging from severe to mild, and therefore prediction of disease severity is difficult. from when idua gene has been cloned more than 109 distinct mutations have been identified in it an...

introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...

conclusions this study indicates that the rate of g1896a mutation at the pc region among hbeag negative patients, in the golestan province of iran, was similar to the average rate encountered in other parts of iran. the pc stop codon mutation was detected in 93.18% of hbeag negative patients. further studies with larger sample sizes are required to elucidate the exact role of these mutations in...

We report results from an experiment to compare the fault detection eeectiveness of mutation, its variants, and data ow testing. As mutation is known to be a costly criterion to satisfy when compared with several other coverage criteria, we compared the fault detection eeectiveness of two variants of the mutation criterion with that of the all-uses criterion. Adequate test sets were generated r...

Background: Several methods have been developed for detection of sequence variation in genes and each has its advantages and disadvantages. A disadvantage of them is that the simpler, cost-effective methods are commonly perceived as being less sensitive in their detection of sequence variation, whereas those with proven sensitivity have a requirement for complex or expensive laboratory equipmen...