Twenty pairs of primers were designed to cover a part of the promoter region and all 18 exons
of the LDLR gene (RefSeq NM_000527.
6 kb, encodes for a polypeptide of 252 amino acid residues, which includes four exons
and is considered to have limited allelic variation (Ho et al.
And owing to this mixing and matching of exons
, a relatively small number of genes (a little over 20,000 in humans) can serve as blueprints for a great variety of proteins.
To increase the CFTR mutation detection rate in black and coloured South African CF patients for molecular diagnosis, we tested patients with a clinical phenotype of CF, and at least one unidentified CFTR mutation, for exon
CNVs in the CFTR gene: 24 coloured patients (of Khoisan, Malay, European and African admixture), most of whom originate from the Western Cape, and 18 black patients (sub-Saharan African origin) were tested.
However, detection of mutations is difficult because of the large size of the COL4A3 and COL4A4 genes, the need for direct sequencings of exons
to maximize mutation detection, the need to detect splicing mutations, and the large number of polymorphisms that exist in these two genes.
Apart from Duchenne muscular dystrophy, exon
skipping potentially concerns all disorders involving proteins which remain functional even when one or several of the exons
of their production code are skipped; for example, haemophilia (a blood disease) or congenital muscular dystrophy (a neuromuscular disease).
Of these, the vast majority were nonexonic--only 244 overlapped exons
All the mutations detected in K-ras exons
1 and 2 and p53 exons
5 through 9 were tested.
Although cells identify protein-coding regions and junk DNA with aplomb, computer programs can have difficulty searching over long stretches of junk--sometimes several thousand bases--to find the next exon
, says Salzberg.
Agilent SurePrint G3 Exon
Microarrays enable researchers to identify both gene-level and exon
-level expression changes in a single experiment to capture subtle but important biological changes.
By analysing the structure of eukaryotic genes it is possible to identify two different sequence types: those that are present in the mature transcript or mRNA, called exons
, and those that are not present, called introns.
14, 2013 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD) - the nation's leading voice for patients and families impacted by Duchenne muscular dystrophy(Duchenne) - announced that it will fund up to $1 million in projects by mid-2014 focused on the development of antisense oligonucleotides or other techniques to skip exons
that are not currently in clinical development, or for multi-exon
skipping projects, including the skipping of duplications.
PCR products containing promoter-exon
6 and exons
2-9 were amplified with 6.
For DMD, in which about 85% of the mutations are deletions or duplications (19), we selected partially overlapping probes (15 bp as the maximum-acceptable overlap) covering all of the exons
and 200 bp to the 5' and 3' intronic sides.
Results: Differential distribution in number and length of exons
and introns was detected in CD36 gene across seven taxa.