Exon promoter regions genetic. Medical search. Frequent questions

The genetic tests currently available mostly use next-generation sequencing to detect these mutations, which can be within exons, introns, and gene promoter regions. (cancernetwork.com)
Importantly, between these beginning and end points lie areas called introns and exons, both of which are reflected in the RNA product. (jove.com)
Since this RNA will be used to generate proteins, exons are denoted as coding regions, whereas introns are another example of non-coding material. (jove.com)
Among them a promoter, exons, introns, and regulatory elements, which together help to determine protein expression in a cell. (jove.com)
Genes themselves consist of protein-coding exons and non-coding introns. (jove.com)
Introns are excised once the sequence is transcribed to mRNA, leaving only exons to code for proteins. (jove.com)
Note that most polymorphisms occur in non-coding regions (that is introns), as coding sequences (or exons) on mutation often produce disease phenotypes. (your-doctor.net)
After transcription, the pre-mRNA transcript is spliced, joining coding exons together while excising introns and generating messenger RNA (mRNA), which is exported from the nucleus and read by ribosomes to produce polypeptides that fold into the final 3-dimensional structure of proteins ( Figure 1.1) . (ernolaszlo.com)

After testing short tandem repeat (STR) markers to confirm linkage to the SLC26A4 locus, we screened the SLC26A4 gene by Sanger sequencing of all 21 exons, exon-intron boundaries and the promoter region for any causative mutation. (nih.gov)
Using PCR and directed sequencing method to establish the complete intron sequence of CYP3A4 from leukocytes, the complete genomic sequence from exon 1 through 13 of CYP3A4 was determined and published in the GenBank database (accession no. (aspetjournals.org)
PCR-based sequencing of entire coding region, intron/exon boundaries, as well as known pathogenic variants (HGMD 2017.3) in the promoter and deep intronic regions of the specified gene(s). (cincinnatichildrens.org)
We show here that exons flanking an intron that has been engineered to be co-transcriptionally cleaved are accurately and efficiently spliced together. (ox.ac.uk)
this fragment contains 1718 bp 5' flanking sequences, exon 1, a 929 bp intron 1 and part of exon 2. (uea.ac.uk)
Deletions from the 3' end also implicate a region across the exon 1/intron 1 boundary and especially +21 to +58 in basal expression. (uea.ac.uk)
A comparison of genomic sequences with PP2Cβ cDNA sequences provided information on the structure and localization of intron/exon boundaries and indicated that PP2Cβ isoforms with different 5' termini were generated by alternative splicing of its pre-mRNA. (elsevierpure.com)
The expanded repeat is located in the promoter region of C9ORF72 transcript variant 1 and in intron 1 of transcript variants 2 and 3. (coriell.org)
A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD). (lu.se)

These SNPs, however, are still thought to account for less than half of all genetic susceptibility to IS, with a number of yet to be discovered genes also contributing to the development of IS. (hindawi.com)
These newer, more comprehensive tests did not increase the rate of detecting genetic variants of uncertain significance-polymorphisms in the BRCA1 or BRCA2 genes for which there is not enough data to conclusively label as deleterious mutations. (cancernetwork.com)
Until recently, Utah-based Myriad Genetics owned a patent on both the BRCA1 and BRCA2 genes, making it the only company or laboratory that could offer BRCA1/2 genetic testing. (cancernetwork.com)
Molecular analysis revealed that the ciD allele is caused by an inversion event that swapped the promoter regions and the first exons of the two genes. (uzh.ch)
Rare chromosomal events are useful in understanding the genetic basis of complex psychiatric disorders since affected genes become feasible targets to analyze for more subtle genetic alterations. (elsevierpure.com)
Research aiming to identify Ph2 has resulted in the isolation of a number of candidate meiotic genes from this region on 3DS. (nature.com)
These findings suggest the possibility of a variant outside the gene region that may contribute, in conjunction with other genes, to differences in susceptibility and partially to the pathology. (bvsalud.org)
For comprehensive investigation of the genetic heterogeneity of diseases with a wide range of causative genes, such as hearing loss, and to identify novel candidate genes, WES analysis overcomes the limitations of targeted analysis and is considerably more cost-effective than whole genome sequencing (WGS) analysis. (biomedcentral.com)
In this study, we sought to explore the wide spectrum of genetic heterogeneity associated with hearing loss in Japan, and to discover novel candidate genes associated with hearing loss, using trio analysis of probands and their parents, and four originally developed gene groups ranked by priority (tiers), as a new strategy to filter candidate variants. (biomedcentral.com)
Further fine mapping in a large population with over 1,000 F 2 plants narrowed this region to 39.08 Kb harboring two genes, Cla97C01G008760 and Cla97C01G008770 , which encode phytoene synthase ( ClPsy1 ) and GATA zinc finger domain-containing protein, respectively. (researchsquare.com)
Along with the complex arrangement of genetic material in a cell's nucleus, human genes also demonstrate their own unique organization. (jove.com)
A strand of DNA is comprised of genes and intergenic regions. (jove.com)
These are designed by a laboratory to include genes commonly associated with a broad phenotype (e.g., cardiomyopathy, ataxia, intellectual disability) or a recognizable syndrome with genetic heterogeneity (e.g. (nih.gov)
Most studies thus far have investigated a limited number of genes from regions which contain common disease associated variants. (ox.ac.uk)
Here we investigate this in inflammatory bowel disease by sequencing the exons and proximal promoters of 531 genes selected from both genome-wide association studies and pathway analysis in pooled DNA panels from 474 cases of Crohn's disease and 480 controls. (ox.ac.uk)
All exons and their flanking regions of these three genes were screened and all sequence variations were characterized by cycle sequencing. (edu.hk)
The present study was carried out with the objective to determine the polymorphism of CYP19 (promoter) and ER1 genes and their possible association with cystic ovarian disease in HF crossbred cows. (ijlr.org)
The presence of biotic and abiotic stress-related cis-regulatory elements in the promoter region suggests that both KCS and ELO genes might also play their role in stress tolerance. (nature.com)

In a retrospective comparison of multiple genetic tests, there was no difference between the multi-gene panel test and the limited BRCA1/2 test in the detection of potentially harmful BRCA mutations. (cancernetwork.com)
Mutations in regulatory regions or other untranslated regions are not detected by this test. (cincinnatichildrens.org)
Promoter analysis of PTEN will identify mutations in about 10% of patients with Cowden syndrome. (cincinnatichildrens.org)
The findings suggest that in addition to chromosomal alterations disrupting the NRXN1α promoter, rare point mutations in the region may also be involved in SZ pathogenesis. (elsevierpure.com)
Site-specific mutations in the heparin-binding region of apoA-V (amino acids 186 to 227) attenuated apoA-V rHDL TG-lowering activity by 50%, suggesting that this sequence element is required for optimal TG-lowering activity in vivo. (omicsdi.org)
Approximately 1 in every 500 newborns exhibits a degree of hearing loss, and more than half of cases are associated with genetic mutations [ 1 ]. (biomedcentral.com)
In addition, we detected two different mutations in EOAD cases at-280 and-2818 relative to the transcription initiation site in exon 1A of PSEN1. (ox.ac.uk)
Nonsynonymous SNP mutations in the first exon of ClPsy1 between parental lines cosegregated with the gf trait only among individuals in the genetic population but were not related to flesh color in natural watermelon panels. (researchsquare.com)
Polymorphisms arise originally out of mutations but are maintained in populations due to factors such as founder effect, genetic drift, and natural selection. (your-doctor.net)
Point mutations within this region have further confirmed the role of this site, along with a more minor role for a neighbouring PEA3 site, in basal expression. (uea.ac.uk)
Genetic mutations play a definitive role in RP. (edu.hk)
In order to identify the genetic alterations underlying RP in Hong Kong Chinese, DMA samples from 79 RP subjects were screened for mutations by single strand conformation polymorphism (SSCP) analysis of polymerase chain reaction (PCR) amplified fragments (PCR-SSCP). (edu.hk)
These gene mutations may result in genetic illnesses from a Reliable Source. (javatpoint.com)
RESULTS: We identified 6 missense mutations in the coding region of SQSTM1 in patients with either FTLD or ALS, none of which were found in healthy controls or patients with PDB. (unito.it)

The majority of CNVs in SZ are deletions affecting the proximal NRXN1α exons and promoter region. (elsevierpure.com)
In 10 of 14 tumors investigated the breakpoints on the myc carrying chromosome were clustered in a 1.5 kb region 5' of the intact gene, proximal to the myc promoters. (lu.se)

In addition, a number of different genetic determinants of IS risk have been identified in genome-wide association studies, with single-nucleotide polymorphisms (SNPs) in 9p21, PITX2, HDAC9, ABO, NINJ2, ALDH2, and TSPAN2, all being linked with stroke susceptibility [ 2 ]. (hindawi.com)
In addition, we determined polymorphisms in the promoter and all coding regions of FCN2 in 40 Gabonese. (nih.gov)
Study the HBS1L-MYB (rs4895441 and rs9376090) genetic polymorphisms in Egyptian patients with β -thalassemia major and sickle cell disease and its relation to Hb F and severity of the disease. (scirp.org)
In sickle cell disease patients, Genetic polymorphisms in HBS1L-MYB (rs9376090 & rs4895441) affect the level of Hb F which could improve the prognosis of these patients. (scirp.org)
Single nucleotide polymorphisms (SNPs) in the Gγ-globin gene promoter in BCL11A regions and HBS1L-MYB intergenic polymorphism (HMIP) are thought to be associated with Hb F levels. (scirp.org)
In this study we systematically screened 3.5 kb of the PSEN1 upstream region and found four novel polymorphisms. (ox.ac.uk)
Genetic analysis confirmed association of two polymorphisms with increased risk for EOAD. (ox.ac.uk)
Which of the following components of genetic apparatus is responsible for such polymorphisms ? (your-doctor.net)
SNPs seem to be one of the most common genetic variations and various SNP genotyping methods are being increasingly employed to study polymorphisms. (your-doctor.net)
Serotonin transporter polymorphisms have been identified in the promoter region, which is a non-coding part of DNA (5HTTLPR-5HT transporter linked promoter region). (your-doctor.net)
Finally, consideration of the broader phenotypic expression of common polymorphisms (e.g. the 'social brain', altruism, etc.) and the use of new experimental paradigms including neurophysiological, neuropsychological and computer games that go beyond the narrow self-report questionnaire design will enable a deeper understanding of how common genetic polymorphisms modulate human behavior. (directivecommunication.net)
Polymorphisms of osteoprotegerin were found in promoter region -950T/C but there was no significance (p=1.000). (bvsalud.org)
No influence was found between genetic polymorphisms of osteoprotegerin in patients with diabetes and periodontitis. (bvsalud.org)
We therefore studied the association of two polymorphisms - R353Q polymorphism at codon 353 involving the catalytic region and the 10 base pair (bp) insertion polymorphism involving the promoter region - with FVIIc levels in 176 healthy Tunisians. (who.int)

In studies examining UGT family 1A variants, the "TATA" box polymorphism in the promoter region of UGT1A1, commonly associated with Gilbert's syndrome, is associated with reduced function in the UGT1A1 transcriptional promoter ( Burchell and Hume, 1999 ) and is associated with decreased formation of the glucuronide conjugate of the important procarcinogenic BaP metabolite, BaP- trans -7,8-dihydrodiol (BPD), in liver microsomes ( Fang and Lazarus, 2004 ). (aspetjournals.org)
The aim of this paper was to analyze the presence of polymorphism in the promoter region T/C950 of the osteoprotegerin gene and its distribution in diabetic patients with periodontitis, when compared to the control group. (bvsalud.org)

GAS5 is found on chromosome 1q25.1, with the gene containing 12 exons across a 4.087 kb region, coding for 29 different GAS5 splicing variants [ 11 ]. (hindawi.com)
Variants in the GAS5 promoter region have been reported to be linked to mutiple diseases. (hindawi.com)
Variants in regulatory regions and non-reported variants in untranslated regions may not be detected by this test. (cincinnatichildrens.org)
Whole exome sequencing (WES), involves sequencing of coding exons comprising approximately 2% of the whole human genome, which are estimated to contain approximately 85% of pathogenic variants associated with monogenic disease [ 6 ]. (biomedcentral.com)
Analysis of the mutant and wild-type-280 variants using luciferase reporter gene expression in transiently transfected neuroblastoma cells showed a 30% decrease in transcriptional activity for the mutant-280G PSEN1 promoter variant compared with the wild-type variant-280C. (ox.ac.uk)
Many inherited disorders and phenotypes are genetically heterogeneous - that is, pathogenic variants in more than one gene can cause one phenotype (e.g., dilated cardiomyopathy, ataxia, hereditary hearing loss and deafness) or one genetic disorder (e.g. (nih.gov)
There are over 120 known genetic variants for neurological disorders in dogs alone ( 1 ), and with advances in molecular genetic technology and consistently decreasing costs, the list is continuing to expand at a rapid rate. (frontiersin.org)
The vast phenotypic diversity within domesticated dogs is the result of selection for genetic variants that define key traits such as skeletal size, body size, skull shape, snout length, coat color, leg length, and other breed-defining characteristics ( 2 , 3 ). (frontiersin.org)
Beyond the "desirable" morphological traits, undesirable "disease" syndromes may be associated with these genetic loci due to either multiple phenotypic sequelae of specific variants, or associated genetic variants carried within long regions of linkage disequilibrium. (frontiersin.org)
The contribution of rare coding sequence variants to genetic susceptibility in complex disorders is an important but unresolved question. (ox.ac.uk)
Furthermore, 7 novel noncoding SQSTM1 variants were found in patients with FTLD and patients with ALS, including 4 variations in the promoter region. (unito.it)

The sensitivity of DNA sequencing is over 99% for the detection of nucleotide changes, small deletions and insertions in the regions analyzed. (cincinnatichildrens.org)
Large deletions involving entire single exons or multiple exons, large insertions and other complex genetic events have been reported in PTEN and will not be identified using this test methodology. (cincinnatichildrens.org)
Large deletions/ duplications, large insertions and other complex genetic events will not be identified using sequencing methodology. (cincinnatichildrens.org)

However, these intergenic regions carry important elements that regulate gene activity, for instance, the promoter where transcription starts, and enhancers and silencers that fine-tune gene expression. (jove.com)
To accomplish this, the transcriptional unit is preceded by regulatory elements, such as promoters and enhancers, that modulate production of its protein encoding transcript ( Figure 1.2 ). (ernolaszlo.com)

The most stringent authentication criteria proposed for ancient DNA, such as independent replication, amino-acid analysis, quantitation of template molecules, multiple extractions and cloning of PCR products, have been followed to obtain reliable sequences from the mtDNA hypervariable region 1 (HVR1), as well as some haplogroup diagnostic SNPs. (blogspot.com)
Mutants showed sequential super-stereotypy in the sense of having more stereotyped and predictable syntactic grooming sequences, and were also more likely to resist disruption of the pattern en route, by returning after a disruption to complete the pattern from the appropriate point in the sequence. (biomedcentral.com)
Promoter sequence analysis of 26 watermelon accessions revealed two SNPs in the cis -acting element sequences corresponding to MYB and MYC2 transcription factors. (researchsquare.com)
The human exome includes all coding nuclear DNA sequences, approximately 180,000 exons that are transcribed into mature RNA. (nih.gov)
In the 5'-flanking region of exon 2, several consensus sequences were found, such as a TATA-like sequence and negative regulatory element box-1, -2 and -3. (elsevierpure.com)

Haplotypes constructed from several single nucleotide variant (SNV) along a chromosome fragment may provide insight into any SNV near the fragment that may be genuinely associated with a phenotype in genetic association studies. (bvsalud.org)
Deficiency of the mannose-binding lectin (MBL) protein, an antigen-recognition molecule involved in systemic and mucosal innate immunity, is determined by variant alleles in MBL2 gene promoter and exon-1 regions. (elsevierpure.com)
In addition, structural brain changes in the form of gray matter volume reduction in areas important for emotional processing, such as the amygdala, have been noted in subjects with the short variant of the promoter region. (your-doctor.net)
The mutation was at first identified in a heterozygous GS patient, but then it was associated both with "prolonged unconjugated hyperbilirubinemia" [ 3 ] and with CNS II (with the G71R variant or the promoter variant c.-40_-39insTA) [ 10 ]. (biomedcentral.com)

Sickle cell disease is an inherited genetic disorder, resulting from homozygous and compound heterozygote mutation in the β globin gene as a single base-pair point mutation (GAG to GTG) results in the substitution of glutamic acid (hydrophilic) to Valine (hydrophobic) in the 6th position of the β-chain of hemoglobin resulting in hemoglobin S formation [7]. (scirp.org)
To investigate whether the interindividual variation in CYP3A4 levels can be partly explained by genetic polymorphism, we analyzed DNA samples from 102 Chinese subjects by polymerase chain reaction (PCR)-single-strand conformation polymorphism analysis for novel point mutation in the CYP3A4 coding sequence and promoter region. (aspetjournals.org)

A known frameshift mutation (c.965insA, p.N322Fs7X) in exon 8 was identified in the two families, which was the same mutation that we detected previously in two other Azeri families. (nih.gov)
Our genetic and in situ hybridization data indicate that ciD is a mutation affecting both ci and pan. (uzh.ch)

Down syndrome critical region gene 1, also known as DSCR1, is a protein that in humans is encoded by the RCAN1 gene. (wikipedia.org)
The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways of genetic transcription, possibly affecting central nervous system development. (wikipedia.org)
The ci gene in ciD is controlled by the ubiquitous pan promoter and encodes a hybrid Ci protein that carries the N-terminal region of Pan. (uzh.ch)
Our data suggest that the increased risk for EOAD associated with PSEN1 may result from genetic variations in the regulatory region leading to altered expression levels of the PSEN1 protein. (ox.ac.uk)
A gene controlling the golden flesh trait in watermelon was firstly discovered and fine-mapped to a 39.08-Kb region on chromosome 1 through a forward genetic strategy, and Cla97C01G008760 (annotated as phytoene synthase protein, ClPsy1 ) was recognized as the most likely candidate gene. (researchsquare.com)
The +21/+58 region contains a putative binding site for the transcription factor leader-binding protein 1 (LBP-1). (uea.ac.uk)
Gel-shift analysis shows that protein binds specifically to this region, but competition studies suggest that it is unlikely to be LBP-1. (uea.ac.uk)

The promoter and coding regions of UGT1A1 were amplified by polymerase chain reaction (PCR) from genomic DNA isolated from leukocytes. (biomedcentral.com)
Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening. (cdc.gov)

Proteins called repressors bind to these regions, preventing polymerase-promoter association, inhibiting transcription. (jove.com)
Genetic epistasis tests show that Dab functions upstream of Abl and ena , and, consistent with this, we show that Dab is required for the subcellular localization of these two proteins. (biologists.com)

It is one of the most common genetic eye diseases with a prevalence of about 1 in 4000. (edu.hk)
2011) concluded that it is the most common genetic abnormality in FTD/ALS. (coriell.org)
OBJECTIVE: There is increasing evidence that common genetic risk factors underlie frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). (unito.it)

Transient transfection of promoter-chloramphenicol O-acetyltransferase reporter constructs into primary human connective tissue fibroblasts shows that a 904 bp fragment that hybridizes to a murine TIMP-1 promoter fragment contains a functional promoter. (uea.ac.uk)
Subsequent analysis by transient transfection assay with a reporter gene showed that these regions act as distinct promoters. (elsevierpure.com)

In an established line of rat fibroblasts (Rat-2), the more distal myc promoter (P2) is the preferred site of initiation. (lu.se)

In this review we define the field of occupational and environmental health (OEH) research as the study of interactions between the following domains: environment (the exposome), 4 individual (genetic) susceptibility (the (epi)genome), and biological outcomes (the responsome) 5 ( figure 1 ). (bmj.com)
This white paper will first provide a brief refresher on the central paradigm of molecular biology, the rigorously controlled process by which genetic information flows within cells and biological systems. (ernolaszlo.com)

These results suggest that the alternative usage of two promoters within the PP2Cβ gene regulates tissue- specific expression of PP2Cβ mRNA. (elsevierpure.com)

In regions of the world such as Central Asia, East Africa, or Latin America where traditional physical anthropology has believed that intermixture of races has created mixed-race populations, genetics has invariably shown the hybridity of these populations. (blogspot.com)

discovered that the rs145204276 indel polymorphism in the GAS5 promoter area alters GAS5 transcript activity, thereby increasing hepatocellular carcinoma (HCC) risk [ 12 ]. (hindawi.com)

Genetic polymorphism in the intergenic region (HBS1L-MYB) between GTP-binding elongation factor HBS1L and myeloblastosis oncogene MYB on chromosome 6q is associated with high fetal hemoglobin levels. (scirp.org)
Subsequent physical mapping localised Ph1 to a 2.5 Mbp region on chromosome 5BL 15 . (nature.com)
Analysis of the irradiation-mutant ph2a in comparison to the syntenic region on rice chromosome 1 estimated the deletion to be at least 80 Mb in size 22 , but more likely to span a 120 to 125 Mb region 23 on the terminal portion of 3DS. (nature.com)
BSA-seq and an initial linkage analysis placed the gf locus in a 290-Kb region on watermelon chromosome 1. (researchsquare.com)
Several lines of evidence including disease breed predisposition, studies suggesting heritability of premature intervertebral disc degeneration (IVDD) and association of a dog chromosome 12 (CFA 12) locus with intervertebral disc calcification have strongly supported a genetic component in IVDD in dogs. (frontiersin.org)

Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis. (lu.se)

Celiac disease genetic testing can accurately confirm whether you have a genetic predisposition to celiac disease. (easydna.lk)

These first two reports were shortly followed by an investigation linking Neuroticism/Harm Avoidance with the serotonin transporter (SLC6A4) promoter region polymorphism (5-HTTLPR). (directivecommunication.net)

METHODS: Promoter region and all exons of SQSTM1 were sequenced in a large group of subjects, including patients with FTLD or ALS, healthy controls, and patients with PDB. (unito.it)

9) The student analyzes the importance of recombinant DNA technology and genetic engineering. (tx.us)

Orloff, M.S. and C. Eng (2008) "Genetic and Phenotypic Heterogeneity in the PTEN Hamartoma Tumour Syndrome. (cincinnatichildrens.org)

Only slight genetic variations that manifest as physical differences cause 99.9%Trusted Source of individuals to have identical human genomes. (javatpoint.com)

A putative promoter region of RHO was also investigated. (edu.hk)

2011) identified a polymorphic hexanucleotide repeat (GGGGCC) located between the noncoding exons 1a and 1b of the C9ORF72 gene. (coriell.org)
Only the control group showed significant results for the probing depth according to the polymorphic region. (bvsalud.org)

Whenever individuals from around the world are clustered based on a large number of loci, invariably the major races emerge as clusters of genetic similarity. (blogspot.com)
Genetic and cytogenetic studies have revealed the presence of several pairing homoeologous ( Ph ) loci that ensure wheat behaves as a diploid during meiosis, with only homologous chromosomes of the same sub-genome (AA, BB or DD) pairing and recombining. (nature.com)

Exon tethering in transcription by RNA polymerase II. (ox.ac.uk)
Key to the organization of an individual gene is its promoter, to which machinery, especially RNA polymerase, can attach. (jove.com)
The polymerase then traverses the genetic material, and continues to yield RNA until it identifies a gene's transcription termination sequence, stopping the process. (jove.com)

A multi-gene panel test provides better diagnostic yield compared with a limited BRCA1/2 genetic test for patients at risk for hereditary breast cancer. (cancernetwork.com)

10976 in exon 8 in the catalytic region of ing factors that may increase cardiovascu- the FVII gene and an insertion of a decanu- lar disease. (who.int)

Conclusions: Whereas these studies cannot exclude the role of genetic variation in the lamin a/c gene in isolated cases of PCOS, we can conclude that common variation in the lamin a/c gene does not contribute to the etiology of PCOS in women of European ancestry. (northwestern.edu)

People can profit from genetic engineering in many ways, including by preventing human diseases. (javatpoint.com)
They can also establish a person's likelihood of possessing or acquiring genetic diseases. (javatpoint.com)
Genetic factors levels vary significantly in the general pop- contribute significantly to the development ulation and are influenced by environmental of these diseases. (who.int)

The diagnostic utility of exome sequencing has consistently been 20%-30% (i.e., a diagnosis is identified in 20%-30% of individuals who were previously undiagnosed but had features suggestive of a genetic condition) [ Gahl et al 2012 , Lazaridis et al 2016 ]. (nih.gov)

However, an important challenge still facing breeders now is the ability to routinely perform DNA-introgression, a process by which distantly related chromosomes exchange genetic information that is passed onto progeny. (nature.com)

We have an obligation to help patients understand genetic risk and how testing can guide healthcare decisions. (cancernetwork.com)
As a first step towards this goal, we resequenced the NRXN1α promoter region in 170 patients with SZ and a similar number of controls. (elsevierpure.com)
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing. (cdc.gov)

When the polymorphism occurs in more than 1% of a population, it can be considered as useful for genetic linkage analysis. (your-doctor.net)

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression. (ox.ac.uk)
The molecular genetic underpinnings of limb length variability in dog breeds are becoming more completely understood although many unexplained types of skeletal dysplasia remain. (frontiersin.org)

No FCN2 promoter haplotypes were significantly distributed between mild and severe cases. (nih.gov)
Generally, low numbers of genetic marker (AFLP, RFLP) significantly influencing the reproduction traits have been detected, because most of them are characterized by low heritability. (ijlr.org)

In this study, a genetic analysis of gf segregating populations indicated that gf was controlled by a single recessive gene. (researchsquare.com)
2014) explored genetic polymorphism of exon 2 of CYP19 gene and its association with ovarian activity in Egyptian buffaloes using PCR-SSCP and sequencing analysis. (ijlr.org)
The aim of this study was to identify and characterize the genetic polymorphism in promoter region of CYP19 gene by RFLP analysis and to elucidate the relationship between polymorphism in CYP19 gene and COD in HF crossbred cattle. (ijlr.org)
Sequence analysis of two tumors failed to reveal any structural changes within exon 1, as found by others in Burkitt's lymphoma. (lu.se)
Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting. (lu.se)

showed that the GAS5 rs55829688 promoter polymorphism alters the ability of the Yin-Yang 1 (YY1) transcription factor to bind to this region, thereby increasing GAS5 expression and elevated colorectal cancer risk [ 13 ]. (hindawi.com)
The 5'-flanking region of exon 1 had features characteristic of a housekeeping gene: it was GC-rich, lacked TATA boxes and CAAT boxes in the standard positions, and contained potential binding sites for the transcription factor SP1. (elsevierpure.com)

Despite being a relatively common disease, the precise molecular mechanisms for the onset of ischemic stroke (IS) are still incompletely understood, with both environmental and genetic factors being implicated in this disease in a complex manner. (hindawi.com)
In endemic regions to leishmaniasis, only a fraction of individuals infected actually develops the disease. (bvsalud.org)
Celiac disease is a serious genetic autoimmune disorder and could lead to long-term complications that could adversely affect your life. (easydna.lk)

This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. (wikipedia.org)

Anatomy14

Organisms10

Diseases2

Chemicals and Drugs98

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Phenomena and Processes110

Disciplines and Occupations1

Information Science4

Named Groups1

Health Care1

Introns8

Intron9

Genes18

Mutations14

Proximal2

Polymorphisms14

Polymorphism in the promoter region2

Variants11

Deletions3

Enhancers2

Sequences5

Variant4

Point mutation2

Mutation2

Protein7

Genomic2

Proteins2

Common genetic3

Transfection2

Fibroblasts1

Biological2

MRNA1

Genetics1

Transcript1

Chromosome5

Susceptibility1

Predisposition1

Serotonin transporter1

Methods1

Recombinant1

Heterogeneity1

Variations1

Putative1

Polymorphic2

Loci2

Polymerase3

Yield1

Catalytic1

Variation1

Diseases3

Exome1

Chromosomes1

Patients3

Linkage1

Variability2

Significantly2

Analysis5

Transcription factor2

Disease3

Phenotype1