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Glucose-6-Phosphate Dehydrogenase (GGPD) Mutations
Glucose-6-Phosphate Dehydrogenase (GGPD) Mutations

... We2-5and others”’ have previously shown that at least nine different types of mutation are responsible for G6PD deficiency in the Chinese population of Taiwan. The finding that several polymorphic sites are located near or within the G6PD gene may provide a haplotype pattern that would enable us to ...
Genetic Alteration of p53 in Brain Astrocytic Tumors
Genetic Alteration of p53 in Brain Astrocytic Tumors

... Figure 3 : PCR-SSCP analysis of TP53 in Astrocytoma. Exons 5, 6, 7, 8 and 9 of TP53 gene were amplified using genomic DNA extracted from tumor biopsy as a template. Electrophoresis was carried out in a 2.5% agarose gel at 9.5 V/cm for 45 minutes and stained with ethidium bromide. Normal bands (non-m ...
The 2R hypothesis and the human genome sequence
The 2R hypothesis and the human genome sequence

... transporter genes diverged before the origin of eukaryotes, the PSMB and the HSP70 gene families both originated before the divergence of animals and fungi, and the Notch genes diverged before the origin of deuterostomes (Hughes, 1998). Obviously these gene families did not arise as part of a block ...
Example
Example

... (miRNAs) played in human cancer is an increasingly active area In particular, it is very challenging to effectively identify miRNAs’ target genes Cancer patients’ prognosis depends largely on their chemosensitivity (sensitivity to chemotherapy) Research has discovered that some specific genes increa ...
14.1 The lacI Gene Encodes a Diffusible Repressor
14.1 The lacI Gene Encodes a Diffusible Repressor

... one of the experimental approaches that was used to elucidate its regulation. In the 1950s, Jacob, Monod, and their colleague Arthur Pardee had identified a few rare mutant strains of bacteria that had abnormal lactose adaptation. One type of mutant, designated lacI–, resulted in the constitutive ex ...
STB 221 THEORY - Unesco
STB 221 THEORY - Unesco

... varies. At the simplest level, we can think of a gene as a unit of information that encodes a genetic characteristic. We will enlarge this definition as we learn more about what genes are and how they function. Genes come in multiple forms called alleles- A gene that specifies a characteristic may e ...
Ch. 21
Ch. 21

... in plasmid or phage vectors. ...
Induced point mutations in the phytoene synthase 1 gene cause
Induced point mutations in the phytoene synthase 1 gene cause

Chapter 10 - McGraw Hill Higher Education
Chapter 10 - McGraw Hill Higher Education

... A normal copy of the gene, cf, was added to the vector adenovirus The virus was then squirted into the lungs of mice that carried a defective cf gene The mice had their immune systems disabled The “healthy” gene was thus introduced into lung cells And the mice were successfully cured! Copyright ©The ...
The evolution of sex chromosomes: similarities and differences
The evolution of sex chromosomes: similarities and differences

... Z chromosomes of both taxa share several markers Thus they probably had the same ancestral sex chromosome Recombination has been suppressed only in the chicken lineage (including other neognathae), and not in palaeognathous birds ...
as Microsoft Word - Edinburgh Research Explorer
as Microsoft Word - Edinburgh Research Explorer

... patients were found to carry a single mutation, F508, a 3bp deletion which removes a single phenylalanine residue6. Subsequently, over 170 independent CFTR mutations have been identified7. The F508 mutation is almost invariably associated with severe disease and pancreatic insufficiency8. However, ...
rs6445975 SNPedia tehranchi
rs6445975 SNPedia tehranchi

... rs6445975 is located on chromosome 3p14.3 and corresponds to intron 4 in the PXK gene (Phox homology domain containing serine/threonine kinase) and is associated with systemic lupus erythematosus (SLE). It is expressed in a variety of tissues including brain, heart, skeletal muscle, and peripheral b ...
The Respiratory System
The Respiratory System

... A bronchus is a(n) 101. ...... in the respiratory tract that branches from the trachea and conducts air to and from the lungs. The bronchus is part of a coordinated 102. ...... designed to place air in the position where there can be rapid 103. ...... of oxygen and carbon dioxide with the circulator ...
Genetic Disorders
Genetic Disorders

... gene product made from the remaining normal allele. In a pure dominant disease, homozygotes and heterozygotes for the mutant allele are both affected equally. Pure dominant disorders rarely if ever exist in medical genetics. Dr. Mohamed Saad Daoud ...
Identification of Full and Partial Class Relevant Genes
Identification of Full and Partial Class Relevant Genes

... It is worth noting that the search for true FCR and PCR features may pose to be computationally intractable due to the large number of possible SVSs. Hence, one key issue is to choose an approximate scheme that can generate a coverage of the classes C. The One-Versus-All (OVA) scheme is generally re ...
The human Y chromosome: the biological role of a “functional
The human Y chromosome: the biological role of a “functional

... 200 sequence-tagged sites (STS’s). The presence or absence of these STS’s on a large set of patients with a wide range of Y anomalies subdivided the euchromatic into 43 ordered intervals, all defined by naturally occurring chromosomal breakpoints. These 43 deletion intervals further refined the seveni ...
Biotechnology
Biotechnology

The Arabidopsis RAD51 paralogs RAD51B, RAD51D and XRCC2
The Arabidopsis RAD51 paralogs RAD51B, RAD51D and XRCC2

PowerPoint File, 13.82 MB
PowerPoint File, 13.82 MB

... in maize. CNVs and PAVs that are not in LD with SNPs could contribute to some of “missing heritability” in GWAS experiments. • “Recurrent de novo CNVs” can arise via meiotic segregation (SNH Model), yielding non-parental gene complements that have phenotypic consequences (transgressive segregation?) ...
Allele- and parent-of-origin-specific effects on expression of the
Allele- and parent-of-origin-specific effects on expression of the

... chromosomes contribute equally (i.e., are expressed equally), to the development of the offspring (Saupe, 2012). However, departures from this model occur, and the expression of some genes has been shown to be governed by unequal allelic contributions, which may bias such predictions. Allele-specifi ...
Clinical use of Whole Genome Sequencing for Mycobacterium
Clinical use of Whole Genome Sequencing for Mycobacterium

... problem, however it is a more straightforward task for M. tuberculosis than for other species due to a lack of horizontal gene transfer; indeed, drug resistance is generally thought to be mediated only through mutations in specific gene targets. The key therefore is to identify those single nucleoti ...
Analysis of flower pigmentation mutants generated by random
Analysis of flower pigmentation mutants generated by random

... In P. hybrida eight unstable alleles, typical for transposon insertions, had been described for six flower pigmentation genes (for review see Gerats et al., 1989). The P. hybrida line W138 contains an unstable allele at the anthocyanin-1 (an1) locus and among W138 progeny new unstable mutations are ...
WORD - ctahr
WORD - ctahr

... regions homologous to the nifH gene were identified in R. phaseoli CFN42. These regions are located on a single plasmid (13). Heteroduplex and nucleotide sequencing studies of each region established the presence of complete nifH genes in each of the three regions (14). Hybridization studies using a ...
Yeast genome evolution-the origin of the species
Yeast genome evolution-the origin of the species

... or pseudogenes in the genome of S. kudriavzevii, despite being present in all other studied Saccharomyces sensu stricto species [16]. These genes function to sense, import and metabolize the sugar galactose. Their loss has been attributed to the removal of a selective pressure, and is presumed to ha ...
Lin, R., C. D. Allis and S. J. Elledge. 1996. PAT1
Lin, R., C. D. Allis and S. J. Elledge. 1996. PAT1

... between chH1 and lacZ (data not shown). A genetic screen was performed to identify mutants whose growth is dependent on the expression of chH1. These mutants are expected to be defective either in the yeast histone H1 homologue or other genes that are suppressible by chicken H1 protein. Cells with l ...
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Oncogenomics



Oncogenomics is a relatively new sub-field of genomics that applies high throughput technologies to characterize genes associated with cancer. Oncogenomics is synonymous with ""cancer genomics"". Cancer is a genetic disease caused by accumulation of mutations to DNA leading to unrestrained cell proliferation and neoplasm formation. The goal of oncogenomics is to identify new oncogenes or tumor suppressor genes that may provide new insights into cancer diagnosis, predicting clinical outcome of cancers, and new targets for cancer therapies. The success of targeted cancer therapies such as Gleevec, Herceptin, and Avastin raised the hope for oncogenomics to elucidate new targets for cancer treatment.Besides understanding the underlying genetic mechanisms that initiates or drives cancer progression, one of the main goals of oncogenomics is to allow for the development of personalized cancer treatment. Cancer develops due to an accumulation of mutations in DNA. These mutations accumulate randomly, and thus, different DNA mutations and mutation combinations exist between different individuals with the same type of cancer. Thus, identifying and targeting specific mutations which have occurred in an individual patient may lead to increased efficacy of cancer therapy.The completion of the Human Genome Project has greatly facilitated the field of oncogenomics and has increased the abilities of researchers to find cancer causing genes. In addition, the sequencing technologies now available for sequence generation and data analysis have been applied to the study of oncogenomics. With the amount of research conducted on cancer genomes and the accumulation of databases documenting the mutational changes, it has been predicted that the most important cancer-causing mutations, rearrangements, and altered expression levels will be cataloged and well characterized within the next decade.Cancer research may look either on the genomic level at DNA mutations, the epigenetic level at methylation or histone modification changes, the transcription level at altered levels of gene expression, or the protein level at altered levels of protein abundance and function in cancer cells. Oncogenomics focuses on the genomic, epigenomic, and transcript level alterations in cancer.
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