exon

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  • noun

Synonyms for exon

sequence of a gene's DNA that transcribes into protein structures

References in periodicals archive ?
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.
Moreover, exonic 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.
The exonic 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), [4] 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.