Product description P003-D1 MLH1-MSH2-v01 - MRC
... Reference samples: Reference DNA samples should be derived from the same tissue type, handled using the same procedure, and prepared using the same DNA extraction method as the patient samples. Reference samples should be derived from unrelated individuals who are from families without a history of ...
... Reference samples: Reference DNA samples should be derived from the same tissue type, handled using the same procedure, and prepared using the same DNA extraction method as the patient samples. Reference samples should be derived from unrelated individuals who are from families without a history of ...
p53, the Cellular Gatekeeper Review for Growth and Division
... activated and turns on the transcription of one of its downstream genes, p21 (WAF1, Cip-1) (El-Deiry et al., 1993). p21 binds to a number of cyclin and Cdk complexes: cyclin D1–Cdk4, cyclin E–Cdk2, cyclin A–Cdk2, and cyclin A–Cdc2. One molecule of p21 per complex appears to permit Cdk activity (and ...
... activated and turns on the transcription of one of its downstream genes, p21 (WAF1, Cip-1) (El-Deiry et al., 1993). p21 binds to a number of cyclin and Cdk complexes: cyclin D1–Cdk4, cyclin E–Cdk2, cyclin A–Cdk2, and cyclin A–Cdc2. One molecule of p21 per complex appears to permit Cdk activity (and ...
abnormalities of chromosome structure
... Trisomy can occur for any chromosome. Trisomies of the 13th, 18th, and 21st chromosomes are seen with any appreciable frequency in live births. Fetuses with most other chromosomal trisomies do not survive to term. PARTIAL TRISOMY: only an extra portion of a chromosome is present in each cell ...
... Trisomy can occur for any chromosome. Trisomies of the 13th, 18th, and 21st chromosomes are seen with any appreciable frequency in live births. Fetuses with most other chromosomal trisomies do not survive to term. PARTIAL TRISOMY: only an extra portion of a chromosome is present in each cell ...
2 SINGLE-MOLECULE DNA:PROTEIN INTERACTIONS - VU-dare
... limits of optical tweezers and what are the parameters that define these limits? In most cases, the performance of an optical tweezers instrument is limited by instrument drift and environmental noise. These factors can, to a large extent be suppressed by placing instruments in sound-isolated, tempe ...
... limits of optical tweezers and what are the parameters that define these limits? In most cases, the performance of an optical tweezers instrument is limited by instrument drift and environmental noise. These factors can, to a large extent be suppressed by placing instruments in sound-isolated, tempe ...
Novel p53 mutants selected in BRCA
... target p53 promoters. For example p53175P, originally described in metastatic cervical carcinoma (Crook et al., 1994), retains essentially wild-type ability to suppress proliferation, consistent with transactivation of p21Waf1. However, the same mutant not only fails to suppress transformation of pr ...
... target p53 promoters. For example p53175P, originally described in metastatic cervical carcinoma (Crook et al., 1994), retains essentially wild-type ability to suppress proliferation, consistent with transactivation of p21Waf1. However, the same mutant not only fails to suppress transformation of pr ...
Mechanisms of Transcription-Replication
... are virtually identical to those for the P7 promoter (compare Fig. 4B to Fig. 3D). Since very different promoters cause similar inhibitory effects on replication, it is likely that the act of transcription, rather than the nature of a promoter, is responsible for this effect. When the trc promoter w ...
... are virtually identical to those for the P7 promoter (compare Fig. 4B to Fig. 3D). Since very different promoters cause similar inhibitory effects on replication, it is likely that the act of transcription, rather than the nature of a promoter, is responsible for this effect. When the trc promoter w ...
Synapsis-Mediated Fusion of Free DNA Ends Forms Inverted Dimer Plasmids in Yeast.
... recombination. Homologous recombination provides an avenue by which to restore a broken chromosome to the wild-type structure. The idea that free DNA ends can serve as initiators in homologous recombination has received strong experimental support (reviewed in THALER and STAHL1988). Rearrangement mi ...
... recombination. Homologous recombination provides an avenue by which to restore a broken chromosome to the wild-type structure. The idea that free DNA ends can serve as initiators in homologous recombination has received strong experimental support (reviewed in THALER and STAHL1988). Rearrangement mi ...
Saccharomyces cerevisiae
... of improved enzyme variants. Heterologous expression of the HRP C isoenzyme has been studied in E.coli (Burke et al., 1989; Jayaraman et al., 1991). Expression of a synthetic gene for HRP C in E.coli generated high levels of the polypeptide chain in inclusion bodies, from which a small amount of act ...
... of improved enzyme variants. Heterologous expression of the HRP C isoenzyme has been studied in E.coli (Burke et al., 1989; Jayaraman et al., 1991). Expression of a synthetic gene for HRP C in E.coli generated high levels of the polypeptide chain in inclusion bodies, from which a small amount of act ...
Nitrate Reductase Deficient Mutants of
... This result suggests that this mutation is in a gene other than nitA; it is here designated as nitB. Cross 3: 14/15 (mt+, nitB-, &A+) x 17/4 (mt-, nitB+, nitA-). Confirmation that the mutations in 14/15 and 17/4 are different was obtained from this cross. The 47 tetrads analysed were made up of IOPD ...
... This result suggests that this mutation is in a gene other than nitA; it is here designated as nitB. Cross 3: 14/15 (mt+, nitB-, &A+) x 17/4 (mt-, nitB+, nitA-). Confirmation that the mutations in 14/15 and 17/4 are different was obtained from this cross. The 47 tetrads analysed were made up of IOPD ...
Parasexual Genetics in Dictyostelium discoideum
... marker located on linkage group I. Complementation and linkage studies in this laboratory with three strains each containing an independently isolated cycloheximide resistance mutation suggest that there is only one gene in D. discoideum conferring a high level of resistance to cycloheximide (500 ,u ...
... marker located on linkage group I. Complementation and linkage studies in this laboratory with three strains each containing an independently isolated cycloheximide resistance mutation suggest that there is only one gene in D. discoideum conferring a high level of resistance to cycloheximide (500 ,u ...
Studies on the Mechanisms of Homolog Pairing and Sister
... Schleiffer et al., 2003). Ring-like cohesin is thought to hold sister chromatids together by surrounding and entrapping them, but direct proof is absent. There are several models to explain how cohesin embraces the sister chromatids. One model is that the entry of DNA into cohesin’s ring is based on ...
... Schleiffer et al., 2003). Ring-like cohesin is thought to hold sister chromatids together by surrounding and entrapping them, but direct proof is absent. There are several models to explain how cohesin embraces the sister chromatids. One model is that the entry of DNA into cohesin’s ring is based on ...
Persistence and Loss of Meiotic Recombination
... individuals one at a time to undergo meiosis until N euploid gametes have been obtained. Highly fit individuals may contribute more than one meiosis while less fit individuals may contribute none. Meiosis: The molecular events of meiosis are explicitly specified in the model: DNA replication, DNA br ...
... individuals one at a time to undergo meiosis until N euploid gametes have been obtained. Highly fit individuals may contribute more than one meiosis while less fit individuals may contribute none. Meiosis: The molecular events of meiosis are explicitly specified in the model: DNA replication, DNA br ...
COAGULATION AND TRANSFUSION MEDICINE Original Article
... Laboratory for genetic testing only if the normalized ratio is 0.85 or less. Depending on the patient's family and personal history of thrombosis and the referring physician's requests, evaluation of other heritable causes of thrombophilia, including deficiencies of proteins C and S and antithrombin ...
... Laboratory for genetic testing only if the normalized ratio is 0.85 or less. Depending on the patient's family and personal history of thrombosis and the referring physician's requests, evaluation of other heritable causes of thrombophilia, including deficiencies of proteins C and S and antithrombin ...
Granato 1996
... strongly reduced or completely absent in these mutants (Fig. 1A-F). The birefringency in wild-type muscles is caused by parallel thread-like myofibrils within muscle fibers. Loss of birefringency might therefore indicate absence of striated muscle tissue, lack of muscle fibers or loss of fiber organ ...
... strongly reduced or completely absent in these mutants (Fig. 1A-F). The birefringency in wild-type muscles is caused by parallel thread-like myofibrils within muscle fibers. Loss of birefringency might therefore indicate absence of striated muscle tissue, lack of muscle fibers or loss of fiber organ ...
Identification of genes that interact with glp-1, a gene
... I(q231)], mutagenized with ethyl methane sulphonate (Brenner, 1974), and returned to plates at permissive temperature. To isolate recessive suppressors, Fi progeny were picked (3 animals/plate) and grown at permissive temperature. F2 progeny were shifted to restrictive temperature (20 °C) as late em ...
... I(q231)], mutagenized with ethyl methane sulphonate (Brenner, 1974), and returned to plates at permissive temperature. To isolate recessive suppressors, Fi progeny were picked (3 animals/plate) and grown at permissive temperature. F2 progeny were shifted to restrictive temperature (20 °C) as late em ...
(..rignt click_Save Target As..)
... females will inherit the sex-linked recessive gene from the fathers. The following is a punnet square example of a sex-linked cross, where all offspring females are the colour of the father and all offspring males are the colour of the mother. The recipricol cross (ie parent males with sex-linked do ...
... females will inherit the sex-linked recessive gene from the fathers. The following is a punnet square example of a sex-linked cross, where all offspring females are the colour of the father and all offspring males are the colour of the mother. The recipricol cross (ie parent males with sex-linked do ...
Increased transcription rates correlate with increased reversion rates
... transcription enhances mutations. Cells with the ability to activate transcription in the presence of ppGpp (relA+) would be expected to have higher rates of transcription and mutation than cells that can not activate derepressed genes (relA mutants). In addition, inactivation of a repressor would a ...
... transcription enhances mutations. Cells with the ability to activate transcription in the presence of ppGpp (relA+) would be expected to have higher rates of transcription and mutation than cells that can not activate derepressed genes (relA mutants). In addition, inactivation of a repressor would a ...
Concentrations of the atherogenic Lp(a) are elevated in FH
... higher in FH individuals compared to non-FH relatives (p < 0.001), although the distribution of apo(a) alleles was not different in the two groups; (2) comparison of Lp(a) concentrations in 28 sib pairs, identical by descent (i.b.d.) at the apo(a) locus but non-identical for LDLR status, extracted f ...
... higher in FH individuals compared to non-FH relatives (p < 0.001), although the distribution of apo(a) alleles was not different in the two groups; (2) comparison of Lp(a) concentrations in 28 sib pairs, identical by descent (i.b.d.) at the apo(a) locus but non-identical for LDLR status, extracted f ...
PDF
... regions. Strong correlations exist in many species of fruit fly that have been used to predict that large proportions of the genome are affected by selection [32–34], whereas in humans such correlations are weaker [35,36], suggesting a less pervasive impact of selection on genetic variation. Social ...
... regions. Strong correlations exist in many species of fruit fly that have been used to predict that large proportions of the genome are affected by selection [32–34], whereas in humans such correlations are weaker [35,36], suggesting a less pervasive impact of selection on genetic variation. Social ...
Molecular Biology and Applied Genetics
... Molecular genetics, or molecular biology, is the study of the biochemical mechanisms of inheritance. It is the study of the biochemical nature of the genetic material and its control of phenotype. It is the study of the connection between genotype and phenotype. The connection is a chemical one. Con ...
... Molecular genetics, or molecular biology, is the study of the biochemical mechanisms of inheritance. It is the study of the biochemical nature of the genetic material and its control of phenotype. It is the study of the connection between genotype and phenotype. The connection is a chemical one. Con ...
the hemophilia gene, click here
... chromosome is arranged in thousands of units called genes. There are between 30,000 and 40,000 genes in each cell of the body. Each one of the genes is in charge of telling the body to produce certain proteins. Some genes decide, for example, the colour of the eyes. Chromosomes come in pairs and eve ...
... chromosome is arranged in thousands of units called genes. There are between 30,000 and 40,000 genes in each cell of the body. Each one of the genes is in charge of telling the body to produce certain proteins. Some genes decide, for example, the colour of the eyes. Chromosomes come in pairs and eve ...
Expression and characterization of von Willebrand
... structure and absence of HMWM from both plasma and platelets. The fastest migrating electrophoretic band was not pronounced12 (Figure 1), which is in contrast to findings in vWD 2A/IIC. The markedly reduced vWF:Ag levels in the patient and the low-normal vWF:Ag levels in the patient’s mother suggest ...
... structure and absence of HMWM from both plasma and platelets. The fastest migrating electrophoretic band was not pronounced12 (Figure 1), which is in contrast to findings in vWD 2A/IIC. The markedly reduced vWF:Ag levels in the patient and the low-normal vWF:Ag levels in the patient’s mother suggest ...
Deletions of NF1 gene and exons detected by multiplex ligation
... confirming this deletion. In total, single and multi-exon NF1 deletions were found in 14/201 (,7%) patients with NF1 (fig 1), whereas whole NF1 gene deletions were detected in 9/201 (,4.5) NF1 individuals. Real-time qPCR results are reported in table 2; a list of all single and multi-exon deletions ...
... confirming this deletion. In total, single and multi-exon NF1 deletions were found in 14/201 (,7%) patients with NF1 (fig 1), whereas whole NF1 gene deletions were detected in 9/201 (,4.5) NF1 individuals. Real-time qPCR results are reported in table 2; a list of all single and multi-exon deletions ...
Forward Genetics
... Worms A and B have #4 SNP from the Hawaii strain Determine SNP #5 and #6 for those that have lost SNP#4 (worm C only) Worm C has SNP #6 but not #5: the egl gene maps to the right of SNP#5 ...
... Worms A and B have #4 SNP from the Hawaii strain Determine SNP #5 and #6 for those that have lost SNP#4 (worm C only) Worm C has SNP #6 but not #5: the egl gene maps to the right of SNP#5 ...
Mutation
In biology, a mutation is a permanent change of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements. Mutations result from damage to DNA which is not repaired or to RNA genomes (typically caused by radiation or chemical mutagens), errors in the process of replication, or from the insertion or deletion of segments of DNA by mobile genetic elements. Mutations may or may not produce discernible changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity.Mutation can result in several different types of change in sequences. Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. Mutations can also occur in nongenic regions. One study on genetic variations between different species of Drosophila suggests that, if a mutation changes a protein produced by a gene, the result is likely to be harmful, with an estimated 70 percent of amino acid polymorphisms that have damaging effects, and the remainder being either neutral or weakly beneficial. Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its original state.