The average human gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases. Residing at Chromosome 4 it has long been of interest to the medical community because its the gene responsible for huntington’s disease, polycystic kidney disease, a form of muscular dystrophy and a variety of other inherited disorders. Chromosome 2 is noteworthy for being the second largest human chromosome, trailing only chromosome 1 in size. It is also home to the gene with the longest known, protein-coding sequence – a 280,000 base pair gene that codes for a muscle protein, called titin, which is 33,000 amino acids long.
Now reseacrhers at Emory university has developed a microarray based test to chek for mutations in this gene. The current test do not detect all types of mutation that affects 1 in 3500 males according to the university wesbite.
Mutations in the dystrophin such as point mutations in a sequence of DNA can result in mistakes in gene expression and nonfunctional proteins that causes Duchenne muscular dystrophy (DMD).
A detailed presentation of the advantages of the test is available at the Emory Genetics Testing website. The test offeredon the Nimblegen CGH array platform gains more prominance as the company is now being acquired by Roche who has plans to dominate the clinical microarray market with its products in genetics testing space
The emory university Genetics testing lab offers numerous other genetic tests
Filed under: clinical diagnostics, clinical microarray, DNA diagnostics, gene expression, genetic medicine, genetic testing, microarray blog, microarray for clinical diagnostics, Pharmacogenomics
[...] Microarray to detect mutations in largest Human Gene The average human gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases… Now researchers at Emory university has developed a microarray based test to check for mutations in this gene… Mutations in the dystrophin such as point mutations in a sequence of DNA can result in mistakes in gene expression and non-functional proteins that causes Duchenne muscular dystrophy (DMD). [...]
[...] Microarray to detect mutations in largest Human Gene The average human gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases… Now researchers at Emory university has developed a microarray based test to check for mutations in this gene… Mutations in the dystrophin such as point mutations in a sequence of DNA can result in mistakes in gene expression and non-functional proteins that causes Duchenne muscular dystrophy (DMD). [...]
Wasn’t this SNPing methodology available for years?
It seems more like advertising than a scientific advance.
its true the SNP was discovered decaddes ago and technology was available for the last few years , but the technology was not available at cheap to everyone , and it was not available for screening of DMD and BMD caused by gene mutation in X chromosome, nonethless I think the SNP story is still in its infancy, so any story is welcome, well I must also chek my way of righting if it does indeed looks like an ad
Price for Affrimatrix to compare the expression of 500 genes in bone marrow samples from 10 acute myloid leukaemia patients with 10 normal subjects.(Determination to be carried out in duplicate for each subject
Kindly forward to me the price plus other requirements if any.
The Dystrophin gene is X-linked (on the X sex chromosome) not on autosome #4