intragenic


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intragenic

(ˌɪntrəˈdʒɛnɪk)
adj
(Genetics) occurring within a gene
References in periodicals archive ?
Quantitative real-time PCR (qPCR) has been used to confirm intragenic constitutional deletions in NF1 (26); however, qPCR has not been used routinely to detect constitutional NF1 microdeletions.
Genetic inactivation of the DPC4 gene occurs in 55% of pancreatic adenocarcinomas, most commonly by homozygous deletions or intragenic mutations combined with loss of heterozygosity.
Several mechanisms, such as point mutations, intragenic recombination, and introduction of foreign (African) alleles, were shown to enhance strain diversity within the family.
The homozygous condition for all loci in DH lines removes the complexity of intragenic interactions, reducing some of the difficulty in genetic analysis (Collins, 1977).
That is, an upgraded exome that includes all coding regions and all noncoding regulatory sequences will be used to detect single-nucleotide polymorphisms, insertions/deletions, and large intragenic copy number variants, and a low-cost (i.
Smad4 (also called Dpc4) is a tumor suppressor gene in the TGF signaling pathway that is genetically inactivated in approximately 55% of pancreatic adenocarcinomas either by intragenic mutation of one allele in combination with the loss of the other allele or by homozygous deletion of both alleles.
At the same time, intragenic recombination was not detected at the intergenic spacer locus with Sawyer's test (www.
These mutation and mutation-like events include single allele changes, intragenic recombination, unequal crossing over, element transpositions, DNA methylation, paramutation, and gene amplification.
Although the FMR1 CpG island is located in the 5' untranslated region of the gene, the FREE2 region is located within the translated portion that follows the ATG within exon 1, which qualifies FREE2 as an intragenic region bridging FMR1 exon 1 and intron 1.
The genetic events leading to reduced affinity for penicillin G are 1) point mutations that confer slight increases in resistance and 2) acquisition by transformation from other commensal species of the pharynx of intragenic sequences, which leads to the synthesis of mosaic PBPs and confers higher levels of resistance (14-16).
Curran et al[41] demonstrated linkage of HERG to the LQT2 locus on chromosome 7q35-36, and 6 LQTS-associated mutations were identified in HERG, including missense mutations, intragenic deletions, and a splicing mutation.
We also selected intragenic probes spaced 2000 bp apart to cover the entire DMD gene (see Fig.