Introduction of the multiple ligase-dependent probe amplification (MLPA) in 2007 by the NHLS in Cape Town and Johannesburg significantly improved the level of service, as the detection range of the assay spans all exons of the DMD gene, allowing for identification of exonic
rearrangements across the gene, not just the hotspots.
Recently developed techniques rely on PCR primers that anneal to specific conserved exonic
regions and amplify across an intron in both genes (Griffiths et al.
95) A silent exonic
dimorphism at position 807C [right arrow] T in the gene for the [alpha]2 peptide of the GP Ia/IIa protein leading to increased receptor density may also be associated with myocardial infarction.
By genotyping a large number of exonic
variants, researchers will have much greater access to biologically relevant markers with which to identify the most disease-relevant variants for downstream functional validation.
cis-elements are important for correct splice-site identification and are distinct from the classical splicing signals (Cartegni et al.
During the comparison of the generated genome with the current reference genome, the team also found that an underrepresentation of tandem repeats was systematically observed in the human reference genome including an exonic
expansion in apoliprotein (LPA).
be/HSF/), bioinformatics tools useful for predicting the effect of splicing mutations, shows the replacement of an exonic
splicing silencer (ESS) with an exonic
splicing enhancer (ESE).
These expansions impair gene expression, but up to 3% of FRDA patients have other molecular defects, such as point mutations within the FXN coding region and exonic
deletions, which can complicate confirmation of a clinical diagnosis by molecular analysis exclusively (8).
Patterns and rates of exonic
de novo mutations in autism spectrum disorders.
In the present study, the nonsynonymous SNP rs1052133 located in the exonic
region of the gene OGG1 was analyzed using polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing analysis for association with the risk of squamous cell carcinomas of the head and neck (SCCHN) in a subpopulation cluster-matched (Indo-Europeans linguistic subgroup + Caucasoid morphological subtype) case-control based genetic association study.
In multiple experiments using a clinically relevant transcriptome discovered by deep sequencing, the research scientists compared the throughput and performance of both profiling technologies and found the new GeneChip([R])Human Transcriptome and Splice Junction Array outperformed RNA-Seq in most all parameters when detecting exonic
changes implicated in human disease and genetic disorders.
Fatty acid composition of beef is associated with exonic
nucleotide variants of the gene encoding FASN.
single base deletion mutations in patients FA82, FA121 and FA199 all resulted in frameshift mutations.
The Ion AmpliSeq (TM) Exome Kit focuses on the exonic
regions of the genome that code for proteins.
Primers flanking exonic
and promoter regions of the genes galactosylceramidase (GALC),  medium and very long chain acyl-CoA dehydrogenases [acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM) and acyl-CoA dehydrogenase, very long chain ACADVL)], galactose-1-phosphate uridyl transferase (GALT), and phenylalanine hydroxylase (PAH) were designed in the NYS NBS program using the Primer3[TM] free software available at http://frodo.