Somatic MEN1 gene mutation does not contribute
... with LOH for MEN1 in a sample of 39 sporadic tumours (9). Prezant et al. using dideoxy fingerprinting analysis (which is more sensitive) studied 45 sporadic tumours but failed to reveal any mutations in the coding sequence of MEN1 (10). Recently, in a sample of 31 sporadic tumours, Tanaka et al. det ...
... with LOH for MEN1 in a sample of 39 sporadic tumours (9). Prezant et al. using dideoxy fingerprinting analysis (which is more sensitive) studied 45 sporadic tumours but failed to reveal any mutations in the coding sequence of MEN1 (10). Recently, in a sample of 31 sporadic tumours, Tanaka et al. det ...
Identification of a novel duplication in the APC gene using multiple
... Among a series of unrelated patients clinically diagnosed with FAP, 15 negative results were obtained by screening for APC germline mutations using dHPLC and direct sequencing of all samples exhibiting abnormal dHPLC profiles. We then used MLPA analysis to screen those samples for exon deletions or ...
... Among a series of unrelated patients clinically diagnosed with FAP, 15 negative results were obtained by screening for APC germline mutations using dHPLC and direct sequencing of all samples exhibiting abnormal dHPLC profiles. We then used MLPA analysis to screen those samples for exon deletions or ...
Chapter 13
... one chromosome from each parent • The 46 chromosomes in a human somatic cell are two sets of 23: one from the mother and one from the father • A diploid cell (2n) has two sets of chromosomes • For humans, the diploid number is 46 (2n = 46) ...
... one chromosome from each parent • The 46 chromosomes in a human somatic cell are two sets of 23: one from the mother and one from the father • A diploid cell (2n) has two sets of chromosomes • For humans, the diploid number is 46 (2n = 46) ...
2006a Tests of parallel molecular evolution in a long
... gene’’ to mean only that a mutational substitution was previously found in that gene in one population, not that the gene was investigated based on parallel phenotypic changes related to its function. Thus, they might also be called ‘‘blind’’ candidate genes. The 12 replicate populations all were fo ...
... gene’’ to mean only that a mutational substitution was previously found in that gene in one population, not that the gene was investigated based on parallel phenotypic changes related to its function. Thus, they might also be called ‘‘blind’’ candidate genes. The 12 replicate populations all were fo ...
simposi sobre infertilitat masculina: genètica i ambient
... pair of kinetochores, will not be under tension and thus trigger a meiotic arrest, or even apoptosis. Moreover, mutations in the spindle checkpoint genes lead to high frequencies of chromosome nondisjunction at anaphase I. There is a much stronger system for error-detection in male meiosis that dete ...
... pair of kinetochores, will not be under tension and thus trigger a meiotic arrest, or even apoptosis. Moreover, mutations in the spindle checkpoint genes lead to high frequencies of chromosome nondisjunction at anaphase I. There is a much stronger system for error-detection in male meiosis that dete ...
lac
... -mutations cannot be -mutations can be complemented complemented -mutations may be recessive or -mutations may be recessive or dominant dominant regulatory proteins are trans-acting factors that recognize cisacting elements to control gene expression ...
... -mutations cannot be -mutations can be complemented complemented -mutations may be recessive or -mutations may be recessive or dominant dominant regulatory proteins are trans-acting factors that recognize cisacting elements to control gene expression ...
Lack of biological significance in the `linguistic features` of
... present here (in Fig. 1a) the corresponding graphs, for 6-tuples, of the human sequence HSRETBLAS (1.5% coding) and the Escherichia coli sequence ECUW89 (82.1% coding) DNAs, as also studied by Mantegna et al. (2). (The mentioned acronyms are the identification codes of the EMBL database.) However, o ...
... present here (in Fig. 1a) the corresponding graphs, for 6-tuples, of the human sequence HSRETBLAS (1.5% coding) and the Escherichia coli sequence ECUW89 (82.1% coding) DNAs, as also studied by Mantegna et al. (2). (The mentioned acronyms are the identification codes of the EMBL database.) However, o ...
Lectures prepared by Christine L. Case Chapter 8 Microbial Genetics
... Insertion or deletion of one or more nucleotide pairs ...
... Insertion or deletion of one or more nucleotide pairs ...
Adaptive value of sex in microbial pathogens
... 1995; Gandon and Otto, 2007). Data from pathogens bearing on the host–parasite model will be discussed below. Because of these and other problems with the negative epistasis model, some workers in this area favor selection and chance effects in finite populations as the main sources of genetic assoc ...
... 1995; Gandon and Otto, 2007). Data from pathogens bearing on the host–parasite model will be discussed below. Because of these and other problems with the negative epistasis model, some workers in this area favor selection and chance effects in finite populations as the main sources of genetic assoc ...
Drug-specific Sites of Topoisomerase II DNA
... observed in vivo (16). Nevertheless, others groups have described differences in cleavage patterns in viral (20), episomal (21), and cellular chromatin (22) following cell treatments with structurally unrelated inhibitors, mAMSA and VM-26, suggesting that the in vivo site selectivity is determined, ...
... observed in vivo (16). Nevertheless, others groups have described differences in cleavage patterns in viral (20), episomal (21), and cellular chromatin (22) following cell treatments with structurally unrelated inhibitors, mAMSA and VM-26, suggesting that the in vivo site selectivity is determined, ...
Stochastic processes and Markov chains (part II)
... A stationary Markov chain is reversible if and only if any path from state Ei to state Ei has the same probability as the path in the opposite direction. Or, the Markov chain is reversible if and only if: for all i, i1, i2, …, ik. E g : P(A →B→C→A) = P(A →C→B→A). E.g.: →C→B→A) A ...
... A stationary Markov chain is reversible if and only if any path from state Ei to state Ei has the same probability as the path in the opposite direction. Or, the Markov chain is reversible if and only if: for all i, i1, i2, …, ik. E g : P(A →B→C→A) = P(A →C→B→A). E.g.: →C→B→A) A ...
Solid Tumour Section Soft tissue tumors: an overview in Oncology and Haematology
... is a family member of the High Mobility Group (HMG) of protein, HMGA2 (a.k.a. HMGIC). In its preferential translocation region, 3q27-28, HMGA2 fuses its DNA binding domains to the protein-binding interfaces of the protein of a gene called LPP, which shows sequence similarity to the LIM protein famil ...
... is a family member of the High Mobility Group (HMG) of protein, HMGA2 (a.k.a. HMGIC). In its preferential translocation region, 3q27-28, HMGA2 fuses its DNA binding domains to the protein-binding interfaces of the protein of a gene called LPP, which shows sequence similarity to the LIM protein famil ...
Genetic Interaction of BBS1 Mutations with
... necessary for pathogenesis. To date, four of the five known BBS loci have been implicated in this mode of oligogenic disease transmission. We present a comprehensive analysis of the spectrum, distribution, and involvement in nonMendelian trait transmission of mutant alleles in BBS1, the most common ...
... necessary for pathogenesis. To date, four of the five known BBS loci have been implicated in this mode of oligogenic disease transmission. We present a comprehensive analysis of the spectrum, distribution, and involvement in nonMendelian trait transmission of mutant alleles in BBS1, the most common ...
Meiosis
... randomly at metaphase I of meiosis • In independent assortment, each pair of chromosomes sorts maternal and paternal homologues into daughter cells independently of the other pairs – The number of combinations possible when chromosomes assort independently into gametes is 2n, where n is the haploid ...
... randomly at metaphase I of meiosis • In independent assortment, each pair of chromosomes sorts maternal and paternal homologues into daughter cells independently of the other pairs – The number of combinations possible when chromosomes assort independently into gametes is 2n, where n is the haploid ...
GENECLEAN® Kit
... This allows binding of the DNA to the silica matrix. Mix every 1-2 minutes to ensure that GLASSMILK® stays in suspension. [Note: If the volume of binding matrix is greater than 1 ml, incubate for at least 15 minutes while frequently mixing by hand, mechanical rocker, rotation wheel, or vortex at med ...
... This allows binding of the DNA to the silica matrix. Mix every 1-2 minutes to ensure that GLASSMILK® stays in suspension. [Note: If the volume of binding matrix is greater than 1 ml, incubate for at least 15 minutes while frequently mixing by hand, mechanical rocker, rotation wheel, or vortex at med ...
(A) (B) (C)
... gamete must be haploid, so the first polar body is produced in meiosis I when homologous chromosomes separate, and in meiosis II, the second polar body is generated when sister chromatids separate. (Unlike in the generation of male gametes, it is common for a single female gamete to be produced at t ...
... gamete must be haploid, so the first polar body is produced in meiosis I when homologous chromosomes separate, and in meiosis II, the second polar body is generated when sister chromatids separate. (Unlike in the generation of male gametes, it is common for a single female gamete to be produced at t ...
Structural variations in the human genome
... favorable circumstances. They are therefore present in many individuals. These are recurrent structural variations, meaning that they happen more often. Non-recurrent structural variations on the other hand occur on rare spots in the DNA. Sometimes an individual can even seem to be the only one with ...
... favorable circumstances. They are therefore present in many individuals. These are recurrent structural variations, meaning that they happen more often. Non-recurrent structural variations on the other hand occur on rare spots in the DNA. Sometimes an individual can even seem to be the only one with ...
No Slide Title
... the pathogenesis of cancers • Anomalies may be detected molecularly providing new tools for cancer screening or detection of relapse • Since the cell-cycle is essential for cell-proliferation, inhibitors of the cell-cycle are anti-proliferative agents useful in a variety of clinical settings (cancer ...
... the pathogenesis of cancers • Anomalies may be detected molecularly providing new tools for cancer screening or detection of relapse • Since the cell-cycle is essential for cell-proliferation, inhibitors of the cell-cycle are anti-proliferative agents useful in a variety of clinical settings (cancer ...
Methylation of the Factor IX Gene is the Main Source of Mutations
... replicative DNA methylation and by misrepairing G:T pairs. Such processes may be one of the main sources of mutations in this gene, which repeatedly occur de novo and support the incidence of hemophilia В with a high frequency. Asymmetry of C T and GA transition mutations was found in a number of ...
... replicative DNA methylation and by misrepairing G:T pairs. Such processes may be one of the main sources of mutations in this gene, which repeatedly occur de novo and support the incidence of hemophilia В with a high frequency. Asymmetry of C T and GA transition mutations was found in a number of ...
Control of Chromosome Pairing and Genome Evolution in Disomic
... An example of their results are shown in Fig. 1…why do the F2s sometimes differ from the parents? Why do the F5s sometimes differ from the F2s? All of their data are summarized in Table 1. They suggested the following mechanisms for the observed results: They suggested the following mechanisms for t ...
... An example of their results are shown in Fig. 1…why do the F2s sometimes differ from the parents? Why do the F5s sometimes differ from the F2s? All of their data are summarized in Table 1. They suggested the following mechanisms for the observed results: They suggested the following mechanisms for t ...
Mutagen
In genetics, a mutagen is a physical or chemical agent that changes the genetic material, usually DNA, of an organism and thus increases the frequency of mutations above the natural background level. As many mutations can cause cancer, mutagens are therefore also likely to be carcinogens. Not all mutations are caused by mutagens: so-called ""spontaneous mutations"" occur due to spontaneous hydrolysis, errors in DNA replication, repair and recombination.