Mutations polymorphism single stranded conformational. Medical search. Frequent questions

Methods: In our study enzyme amplification (PCR) of the 10 target exons of the said gene with simultaneous mutation detection in them by PCR-SSCP (Polymerase chain reaction-single strand conformational polymorphism) reaction analysis method was attempted by screening of exon 1 - 10 with respect to normal healthy controls without Diabetes Mellitus. (scirp.org)
Conclusions: Since maximum number of variations exists in exon 5 of the said gene, hence one can initially go for exon5 followed by other exons, while screening for pathogenic MODY 3 mutations in the responsible gene by PCR-SSCP method. (scirp.org)
SequaGel MD is a proprietary formulation, supplied as a 2X stock, designed to resolve sequence-related differences by SSCP (single-strand conformational polymorphism) and heteroduplex analysis. (nationaldiagnostics.com)
Two principal methods of conformational analysis have been developed, SSCP Analysis and heteroduplex analysis. (nationaldiagnostics.com)
These had all been previously screened for the presence of p53 mutations in exons 2 and 4-11 by single strand conformational polymorphism (SSCP) analysis and DNA sequencing as previously described. (bmj.com)
Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) screening of genomic DNA may be used to make prenatal diagnosis. (medscape.com)
In search of a quick and reliable HPG classification, three different molecular approaches were tested: the restriction fragment length polymorphism (RFLP) method applied to mtDNA control region (CR), the single strand conformational polymorphism (SSCP) method applied to NADH dehydrogenase subunit 2 (MT-ND2) and to NADH dehydrogenase subunit 4 (MT-ND4) regions. (metu.edu.tr)

It is caused by a point mutation (G→T) at nucleotide position 559 of the gene, bovine solute carrier family 35 member 3 (SLC35A3). (researchgate.net)
Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA. (eahad.org)
a Phe to Ser substitution at codon 174, a Cys to Tyr substitution at codon 197, and a point mutation at the splice acceptor site of intron 12, in patients with aganglionosis confined to the rectosigmoid colon, the transverse colon, and the total colon, respectively. (drugbank.com)

Thus, this study reports the results of a mutation analysis of the coding region of the SLC2A10 gene and the identification of six novel single nucleotide polymorphisms. (diabetesjournals.org)
Seven of the nine polymorphisms were codon 72 single nucleotide polymorphisms (SNP) with an Arg/Pro allelotype. (bmj.com)
By optimised primer design it was possible to type the 4 relevant single nucleotide polymorphisms (SNPs) in the prnp simultaneously in one multiplex reaction. (biomedcentral.com)

One hundred sixteen consecutive ovarian cancer patients seen for routine clinical care were examined for BRCA1, BRCA2, hMSH2, and hMLH1 gene mutations with use of the polymerase chain reaction, single-strand conformation polymorphism analysis, and direct gene sequencing. (nih.gov)
Single-strand conformation polymorphism analysis was used to search for mutations in the coding segments of the MYL2 gene, and the abnormal products were sequenced. (nih.gov)
2001) Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young. (scirp.org)
METHODS: : The entire CDKN2A coding region and exon 2 of the CDK4 gene of an affected member of each of 52 families from southern Sweden with at least two cases of melanoma in first- or second-degree relatives were screened for mutations by use of polymerase chain reaction-single-strand conformation polymorphism analysis. (lu.se)

Among 116 unselected ovarian cancer patients we identified a total of 13 germline mutations in 12 patients: 10 in BRCA1, one each in hMSH2 and hMLH1, and a single BRCA2 mutation, which occurred in a patient also carrying a BRCA1 mutation. (nih.gov)
Another germline deletion ( TGFBR1*6A ) and somatic mutations in the TGFBR1 were also analyzed by PCR and single-strand conformational polymorphism. (aacrjournals.org)
The majority of classical LFS families harbour germline mutations of the p53 tumour suppressor gene. (bmj.com)
We analyzed families with two or more cases of melanoma for germline mutations in CDKN2A and CDK4 to elucidate the contribution of these gene defects to familial malignant melanoma and to the occurrence of other cancer types. (lu.se)
Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families. (ewha.ac.kr)
Germline mutations in the BRCA1 and BRCA2 genes are responsible for the predisposition and development of familial breast and/or ovarian cancer. (ewha.ac.kr)
To investigate the presence of BRCA1 and BRCA2 germline mutations in Korean breast and/or ovarian cancer families, we screened a total of 27 cases from 21 families including two or more affected first- or second-degree relatives with breast and/or ovarian cancer. (ewha.ac.kr)
In nine families, we found BRCA1 and BRCA2 germline mutations that comprised four frameshift mutations and five nonsense mutations. (ewha.ac.kr)
Dive into the research topics of 'Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families. (ewha.ac.kr)

The aim of this study was to detect carriers of CVM in Holstein population using Polymerase Chain Reaction- Primer-introduced restriction analysis and Restriction Fragment Length Polymorphism (PCR-PIRA and RFLP) methods. (researchgate.net)

In this study, the authors performed mutation analysis of these three genes in 41 sporadic HSCR patients without any family history by using single-strand conformational polymorphism or denaturing gradient gel electrophoresis methods. (drugbank.com)

p53 mutations in exons 2-11 were assessed in 59 endometrioid carcinomas by polymerase chain reaction-single-strand conformational polymorphism and sequence analysis. (bmj.com)

Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). (eahad.org)
DNA microarray analysis for the detection of mutations in hemophilia A. (eahad.org)
Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype. (eahad.org)
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. (eahad.org)
METHODS: These methods included clinical diagnosis, mutation detection, haplotype analysis, and functional expression studies using single-channel recordings of mutant AChR transiently transfected into HEK293 cells. (ox.ac.uk)
Direct sequencing covering the region of exon 2 encoding amino acid positions 136, 154 and 171 is the most accurate method, that enables the typing of additional and detection of hitherto unknown polymorphisms. (biomedcentral.com)
SNPs were detected via allele-specific oligonucleotide amplification coupled with real-time or electrophoretic product detection, or single strand conformation polymorphism. (oregonstate.edu)

Our purpose was to determine the prevalence of BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in a large, unselected population of ovarian cancer patients and to evaluate the relationship between mutation status and a routinely obtained family history of cancer. (nih.gov)

However, the codon 206 polymorphism may be related to the interindividual variation in fasting and oral glucose-induced serum insulin levels. (diabetesjournals.org)
Two novel mutations at 373 codon of FVIII gene detected by DGGE. (eahad.org)
a nonsense mutation of Trp to stop at codon 275, and a T insertion at nucleotide 878, in patients with aganglionosis confined to the rectosigmoid colon, and the descending colon, respectively. (drugbank.com)
Women harboring either a mutation or an Arg/Pro allelotype at codon 72 had a lower overall survival rate than women whose tumors lacked alterations in the p53 gene ( P = 0.0029). (bmj.com)
Women were stratified based on p53 genetic alterations (p53 mutation or p53 codon 72 SNP) and whether or not they received adjuvant radiation therapy. (bmj.com)

Fisher's exact test was used to evaluate possible associations between BRCA1 and BRCA2 mutation status and specific familial characteristics. (nih.gov)
Most mutations of BRCA1 and BRCA2 associated with breast and/or ovarian cancer result in truncated proteins. (ewha.ac.kr)
Relatives of BRCA1 and BRCA2 mutation carriers have long been proposed by epidemiological studies to have an increased risk of developing prostate cancer. (biomedcentral.com)

A reduction in the number of acetylcholine receptors (AChR) on the postsynaptic membrane is characteristic of MG. This may be inherited (AChR deficiency syndrome) or acquired (MG). The authors report two sisters with AChR deficiency caused by heteroallelic mutations in the AChR epsilon-subunit gene. (ox.ac.uk)
They are caused by missense mutations within the subunits of muscle nicotinic acetylcholine receptors (AChR) that result in prolonged ion channel activations. (ox.ac.uk)

2001. beta-Catenin mutation in rat colon tumors initiated by 1,2-dimethylhydrazine and 2-amino-3-methylimidazo[4,5-f]quinoline, and the effect of post-initiation treatment with chlorophyllin and indole-3-carbinol. . (oregonstate.edu)
2006. Tumors from rats given 1,2-dimethylhydrazine plus chlorophyllin or indole-3-carbinol contain transcriptional changes in beta-catenin that are independent of beta-catenin mutation status. . (oregonstate.edu)

Among the nine mutations, three novel BRCA1 mutations (E1114X, Q1299X, 4159delGA) and two novel BRCA2 mutations (K467X, 8945delAA) were identified in this work. (ewha.ac.kr)

The aim of the present study was to search for mutations in the ventricular regulatory myosin light chain gene (MYL2), located on chromosome 12q23q24.3, in a panel of 42 probands presenting a classical phenotype of familial hypertrophic cardiomyopathy. (nih.gov)
In conclusion, we show that mutations in the MYL2 gene may be involved in familial and classical forms of hypertrophic cardiomyopathy, and we provide new tools for the genetic analysis of patients with familial hypertrophic cardiomyopathy. (nih.gov)
1998).Linkage and molecular scaning analysis of MODY 3/hepatocyte nuclear factor 1-alpha gene in typical familial type 2 diabetes: Evidence for novel mutation in exon 8 and 10. (scirp.org)
1999) High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. (scirp.org)
The disorder, which has a familial predisposition and occurs predominantly in males, has similarities to three X-linked proximal renal tubular disorders that are due to mutations in the renal chloride channel gene, CLCN5. (ox.ac.uk)
Classical familial adenomatous polyposis (FAP) is a high-penetrance autosomal dominant disease that predisposes to hundreds or thousands of colorectal adenomas and carcinoma and that results from truncating mutations in the APC gene. (ox.ac.uk)

By analysis of genetic recombinations, one of these mutations identified in a large family allowed us to refine the localization of the MYL2 gene on the genetic map, in an interval of 6 cM containing six informative microsatellite markers. (nih.gov)
Surprisingly, the sequence analysis of PCR product also revealed the presence of two previously unknown homozygous mutations (TG→CT) at nucleotide positions 554 and 555 in addition to the previously reported heterozygous mutation at position 559. (researchgate.net)
Perform further specific diagnostic testing, including DNA mutation analysis, to confirm the underlying diagnosis (see Other Tests). (medscape.com)
Single-strand conformational polymorphism analysis: basic principles and routine practice. (elsevierpure.com)
Dive into the research topics of 'Single-strand conformational polymorphism analysis: basic principles and routine practice. (elsevierpure.com)
Screening was performed using multiplex single-strand conformation analysis, with all potential variants confirmed using genomic sequencing. (duke.edu)
Analysis of 18 novel mutations in the factor VIII gene. (eahad.org)
Ectopic mRNA analysis and molecular modelling substantiate severe haemophilia in a patient with a FVIII gene splice mutation. (eahad.org)
Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease. (drugbank.com)
It provides an efficient and inexpensive diagnostic mutation analysis that will improve the quality of prnp genotyping compared with other low-cost methods. (biomedcentral.com)
Genetic analysis confirmed association of two polymorphisms with increased risk for EOAD. (ox.ac.uk)
Haplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics. (oregonstate.edu)

Of 22 family history variables analyzed, only two (maternal family history of breast or ovarian cancer, p=0.037, and maternal family history of any cancer, p=0.020) conferred a significantly increased risk of carrying a BRCA1 mutation compared with ovarian cancer patients without such a history. (nih.gov)
However, the majority of ovarian cancer patients with these family histories and other suggestive histories tested negative for mutations. (nih.gov)
The majority of ovarian cancer patients with suggestive family histories test negative for known gene mutations, perhaps suggesting the existence of additional undiscovered genes predisposing to ovarian cancer. (nih.gov)
In white women, prevalence of inherited mutation was 23% for cases with family history of ovarian cancer, 13% for cases from families with at least 4 cases of breast cancer with or without ovarian cancer, and 33% for cases from families with both breast and ovarian cancer and at least 4 affected relatives. (duke.edu)
In contrast, BRCA1 mutations are sufficiently frequent in families with both breast and ovarian cancer, or at least 4 cases of breast cancer (at any age), that genotyping might be considered. (duke.edu)

The TGFBR1*6A allele was not significantly associated with breast cancer patients and only one somatic mutation was found in 71 breast cancers. (aacrjournals.org)
13 14 Although p16 INK4a is most frequently inactivated by homozygous deletion, point mutations or somatic methylation of 5′ regulatory regions are also important mechanisms of gene inactivation. (bmj.com)

Nine families carried an identical alteration consisting of the insertion of arginine at position 113 of p16(INK4a), and one carried a missense mutation, in which the valine at position 115 was replaced with a glycine. (lu.se)
A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A. (eahad.org)

Another group of patients with multiple adenomas has no mutations in the APC gene, and their phenotype probably results from variation at a locus, or loci, elsewhere in the genome. (ox.ac.uk)

Approximately 10% of ovarian cancers occur in association with genetic mutations known to predispose to the disease. (nih.gov)
These observations are consistent with other findings of significantly increased p53 protein expression in the oral mucosa and other tissues of smokers and suggests that p53 mutations may be an early event in smoking-induced oral cancers. (mcmaster.ca)

MODY can result from mutations in any one of the six different genes, one of which encodes the glycolytic enzyme Glucokinase, associated with MO-DY2 and the other five encode transcription factors HNF4-alpha associated with MODY 1, HNF1-alpha associated with MODY 3, IPF with MODY 4, HNF1-Beta with MODY 5 and NeuroD1 with MO-DY6. (scirp.org)
Studies related to mutations in the MODY genes have led to a better understanding of the genetic causes of the Beta cell dysfunction as genetic factors plays a great role in this disorder. (scirp.org)
Objective: To investigate the mutation pattern in the different transcription factor genes with special reference to HNF1-alpha which are highly penetrant with 63% mutation carriers manifesting clinical diabetes by the age of 25 years. (scirp.org)
However, the low mutation rate of susceptibility genes in sporadically occurring HSCR suggests that other genes or environmental factors are involved in the development of the disease. (drugbank.com)
Consequently, several anterior segment dysgenesis phenotypes are associated with mutations in genes expressed during neural crest development. (molvis.org)

Currently, most laboratories use multiplex PCR amplification to examine deletion "hotspots," which account for approximately 59% of all mutations. (medscape.com)
An additional 5 patients had rare missense mutations or a single amino acid deletion, the biological significance of which is unknown. (duke.edu)

All nine mutations led to premature termination producing shortened proteins. (ewha.ac.kr)

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene. (eahad.org)

To the our best of knowledge, this is the first study to report the existence of homozygous and heterozygous mutations at positions 554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. (researchgate.net)
However, it is surprising that no phenotypic effects were observed in the carrier bull, necessitating further studies to fully elucidate the effects of these novel homozygous mutations. (researchgate.net)

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations. (ox.ac.uk)
SCCMS mutations within the AChR subunit are located in various functional domains, whereas fully described mutations in AChR non- subunits have, thus far, been located only in the M2 channel-lining domain. (ox.ac.uk)
RESULTS: The authors identified two SCCMS mutations in the AChR subunit, L78P and L221F. (ox.ac.uk)

MLPA assay in F8 gene mutation screening. (eahad.org)
Prenatal diagnosis is possible once the gene mutation of the index case is identified. (medscape.com)

Scholars@Duke publication: A novel mutation in the von Hippel-Lindau gene. (duke.edu)

To overcome these drawbacks, we developed a prnp typing method that is based on a `multiplex amplification refractory mutation system' (ARMS) reaction. (biomedcentral.com)

Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients. (eahad.org)
Thus, the results of our study expand the spectrum of clinical phenotypes associated with CLCN5 mutations to include this proximal renal tubular disorder of Japanese children. (ox.ac.uk)

Dramatic effect of furanose C2' substitution on structure and stability: directing the folding of the human telomeric quadruplex with a single fluorine atom. (ub.es)
Indeed, given that four guanine residues can self-associate in a planar arrangement through a Hoogsteen-type hydrogen-bonding network [ 4 ] to form a structure called G-quartet, G-rich strands can adopt a peculiar three-dimensional arrangement called G-quadruplex DNA [ 5 - 9 ] resulting from the stacking of several contiguous G-quartets (Figure 1 ). (hindawi.com)
The formation of G-quadruplex DNA is easily conceivable in DNA sequences that are present as single strands in cells, such as the telomeric overhang. (hindawi.com)
Nevertheless, we have to keep in mind that these G-quadruplex-forming sequences although transiently single-stranded are a priori not as easily accessible as the telomeric sequences, due to the presence of the transcription machinery [ 28 ]. (hindawi.com)

The authors identified and characterized two -subunit mutations, located outside M2, that underlie SCCMS in three kinships. (ox.ac.uk)

BACKGROUND: : Inherited mutations in the CDKN2A tumor suppressor gene, which encodes the p16(INK4a) protein, and in the cyclin-dependent kinase 4 (CDK4) gene confer susceptibility to cutaneous malignant melanoma. (lu.se)
The G2 M checkpoint is especially important in protecting normal cells from tumor formation driven by the accumulation of mutations. (hsp90-inhibitors.com)

We have investigated four unrelated Japanese kindreds with this tubulopathy and have identified four different CLCN5 mutations (two nonsense, one missense, and one frameshift). (ox.ac.uk)

A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII gene. (eahad.org)

Most of the mutations occur in known functional motifs, such as the SMG loop or CP binding domains. (wikipedia.org)

CONCLUSION: SCCMS mutations may show a recessive inheritance pattern and variable penetrance. (ox.ac.uk)

IDH1/2 mutations are the histological classification and avoids the TeT2 pRomoteR methylation in low- most significant predictor of favourable ambiguity inherent to the diagnosis of gRade diffuse gliomas lacking idh1/2 outcome of glioblastoma patients. (who.int)

Scope includes mutations and abnormal protein expression. (cancerindex.org)

Our results show that one out of 60 bulls tested exhibited polymorphism (G→T) at position 559 in exon 4 of SLC35A3 gene. (researchgate.net)
RESULTS: : CDKN2A mutations were found in 10 (19%) of the 52 families. (lu.se)
RESULTS: Three of 211 patients with breast cancer had disease-related variants at BRCA1, all of which were protein-truncating mutations. (duke.edu)
A variant of FAP is attenuated adenomatous polyposis coli, which results from germ-line mutations in the 5' and 3' regions of the APC gene. (ox.ac.uk)

In this study we combined the amplification refractory mutation system (ARMS) with standard fluorescent based fragment length analyses method to develop a prnp genotyping method (PRNP ARMS). (biomedcentral.com)

Since a variation of a single nucleotide in a sequence may indicate a significant genetic anomaly, an extremely sensitive method to analyze these mutations is necessary. (nationaldiagnostics.com)

More than half the patients with BRCA1 mutations had family histories that would generally be considered unremarkable. (nih.gov)
A routinely obtained family history is an unreliable way to identify patients who might harbor mutations. (nih.gov)
CONTEXT: Previous studies of BRCA1 mutation prevalence have been based on high-risk groups, yielding estimates that do not reflect the experience of the general population of US patients with breast cancer. (duke.edu)
OBJECTIVE: To determine prevalence of known disease-related mutations and other variants in BRCA1 and how it differs by race, age at diagnosis, and family history status in a population-based sample of white and black patients with breast cancer unselected for family history. (duke.edu)
Spectrum of factor VIII mutations in Arab patients with severe haemophilia A. (eahad.org)
Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A. (eahad.org)
Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A. (eahad.org)
Mutations of the factor VIII gene in thai hemophilia A patients. (eahad.org)
Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations. (eahad.org)
Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A. (eahad.org)
Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients. (eahad.org)
Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. (eahad.org)
Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N. (eahad.org)
Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations. (eahad.org)

CONCLUSIONS: : Our findings confirm that the majority of CDKN2A-associated melanoma families in Sweden are due to a single founder mutation. (lu.se)

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). (ox.ac.uk)

Anatomy5

Organisms7

Diseases5

Chemicals and Drugs76

Analytical, Diagnostic and Therapeutic Techniques and Equipment46

Phenomena and Processes113

Disciplines and Occupations5

Information Science7

Named Groups3

Health Care11

Geographicals3

SSCP7

Point Mutation3

Nucleotide polymorphisms3

Conformation polymorphism analysis4

Germline9

Restriction Fragment Len1

Gradient gel electrophoresis1

Exons1

Detection7

Hereditary nonpol1

Codon5

BRCA1 and BRCA23

Receptors2

Beta-Catenin mutation2

BRCA21

Familial6

Analysis12

Ovarian cancer5

Somatic2

Missense mutation2

Phenotype1

Cancers2

Genes5

Deletion2

Proteins1

Recurrent1

Homozygous2

AChR3

Gene mutation2

Novel mutation1

Reaction1

Clinical2

Quadruplex4

Subunit1

Tumor2

Nonsense1

Splice1

Occur1

Conclusion1

Methylation1

Protein expression1

Results4

Amplification1

Method1

Patients14

Founder1

Molecular1