Resource pack: Human genetic variation and disease
... adverse reactions in that particular patient. Page 2 ...
... adverse reactions in that particular patient. Page 2 ...
Genomics
... match between a query sequence and a subject sequence is the number of subject sequences in a completely random database that would have the same match score or better. The random database must be the same size as the one you are using. – Really bad matches have e-values of 1 or more: An e-value of ...
... match between a query sequence and a subject sequence is the number of subject sequences in a completely random database that would have the same match score or better. The random database must be the same size as the one you are using. – Really bad matches have e-values of 1 or more: An e-value of ...
notes File - selu moodle
... Promoter – sequence within DNA Docking site for RNA polymerase Signifies start of a gene Infers directionality of the gene Elongation uses RNA polymerase to add ribonucleotides that are complementary to the template strand of DNA RNA polymerase has a subunit that recognizes the promoter with accurac ...
... Promoter – sequence within DNA Docking site for RNA polymerase Signifies start of a gene Infers directionality of the gene Elongation uses RNA polymerase to add ribonucleotides that are complementary to the template strand of DNA RNA polymerase has a subunit that recognizes the promoter with accurac ...
LDL receptors
... Fewer receptors lead to elevated cholesterol which causes plaque formation and coronary artery disease = increased risk of early death secondary to heart disease. ...
... Fewer receptors lead to elevated cholesterol which causes plaque formation and coronary artery disease = increased risk of early death secondary to heart disease. ...
Duncan memorial lecture Medical genetics, the human genome
... whole to function properly, needs an appropriate repertoire of biochemical functions. Every cell has a unique history as to where it came from and how it got to be what it is; the history of a liver cell is not the same as that of a hair root cell. However, they all start with exactly the same genet ...
... whole to function properly, needs an appropriate repertoire of biochemical functions. Every cell has a unique history as to where it came from and how it got to be what it is; the history of a liver cell is not the same as that of a hair root cell. However, they all start with exactly the same genet ...
Nessun titolo diapositiva
... or reorganization of nucleosomes that occurs in conjunction with activation of genes for transcription. There are several chromatin remodeling complexes that use energy provided by hydrolysis of ATP. The SWI/SNF, RSC, and NURF complexes all are very large; there are some common subunits. A remodelin ...
... or reorganization of nucleosomes that occurs in conjunction with activation of genes for transcription. There are several chromatin remodeling complexes that use energy provided by hydrolysis of ATP. The SWI/SNF, RSC, and NURF complexes all are very large; there are some common subunits. A remodelin ...
Ch. 4: Modern Genetics
... Hemophilia: disorder in which a person’s body does not clot properly due to the lack of the production of a specific protein. Caused because of a recessive gene found on the X chromosome. Hemophilia is more common in males than females. There are 2 primary types…. Hemophilia A occurs in about 1 in ...
... Hemophilia: disorder in which a person’s body does not clot properly due to the lack of the production of a specific protein. Caused because of a recessive gene found on the X chromosome. Hemophilia is more common in males than females. There are 2 primary types…. Hemophilia A occurs in about 1 in ...
Biology EOCT Review
... Found in every cell of an organism Located with the chromosomes in the nucleus Double helix shape Nucleic acid made of long strands of nucleotides Nucleotides – nitrogen base, sugar, and phosphate group ...
... Found in every cell of an organism Located with the chromosomes in the nucleus Double helix shape Nucleic acid made of long strands of nucleotides Nucleotides – nitrogen base, sugar, and phosphate group ...
What is a genome?
... LN= total number of bases generated EXAMPLE: 1 Megabase genome 100 nt reads 200,000 reads The coverage is 200,000x100/1,000,000=20 ...
... LN= total number of bases generated EXAMPLE: 1 Megabase genome 100 nt reads 200,000 reads The coverage is 200,000x100/1,000,000=20 ...
Chapter 8 - Laboratory Animal Boards Study Group
... 42. procedures are same except that in DNA fingerprinting the probes bind to minisatellites instead of to a single or at most a few discrete genes. 43. a DNA fingerprint is the sum of the multiple alleles that exist at the many minisatellite loci. Because these sequences are so variable the probabil ...
... 42. procedures are same except that in DNA fingerprinting the probes bind to minisatellites instead of to a single or at most a few discrete genes. 43. a DNA fingerprint is the sum of the multiple alleles that exist at the many minisatellite loci. Because these sequences are so variable the probabil ...
Reading frame
... In practice it is treated as a synonym for "computational molecular biology“ ----the use of computers to characterize the molecular components of living things. ...
... In practice it is treated as a synonym for "computational molecular biology“ ----the use of computers to characterize the molecular components of living things. ...
The Dinosaur Heresies
... Absolute divergence times are not known for many test species “Molecular clocks” can give approximate time estimates ...
... Absolute divergence times are not known for many test species “Molecular clocks” can give approximate time estimates ...
Testing for Natural Selection on Conserved Non-genic Sequences in Mammals
... The observation of high DNA sequence conservation across long periods of evolutionary time is thought to be a good signal of important regions. Otherwise, the similarity between sequences of species would have eroded by neutral mutation processes. This is also why, in general, higher conservation is ...
... The observation of high DNA sequence conservation across long periods of evolutionary time is thought to be a good signal of important regions. Otherwise, the similarity between sequences of species would have eroded by neutral mutation processes. This is also why, in general, higher conservation is ...
Subject:
... I will be able to describe and explain the process of cell division. I will be able to predict the heredity of traits in populations using the Mendelian model of heredity. I will be able to explain the molecular basis of heredity at the level of chromosomes, DNA and individual genes. I will be able ...
... I will be able to describe and explain the process of cell division. I will be able to predict the heredity of traits in populations using the Mendelian model of heredity. I will be able to explain the molecular basis of heredity at the level of chromosomes, DNA and individual genes. I will be able ...
Gene Disorders
... only expressed when individual has no copies of the normal allele Royal hemophilia - sex-linked ...
... only expressed when individual has no copies of the normal allele Royal hemophilia - sex-linked ...
File
... ____23.) Which of the following is a nucleotide found in DNA? A.) Ribose +phosphate group + thymine B.) Ribose + phosphate group + uracil C.) Deoxyribose + phosphate group + uracil D.) Deoxyribose + phosphate group + cytosine ____24.) Which of the following is a nucleotide found in RNA? A.) Ribose + ...
... ____23.) Which of the following is a nucleotide found in DNA? A.) Ribose +phosphate group + thymine B.) Ribose + phosphate group + uracil C.) Deoxyribose + phosphate group + uracil D.) Deoxyribose + phosphate group + cytosine ____24.) Which of the following is a nucleotide found in RNA? A.) Ribose + ...
GENETICS
... affected the disorder is X-linked (23rd Chromosome) If it is a 50/50 ratio between men and women the disorder is autosomal (any of the #1-22 chromosomes) ...
... affected the disorder is X-linked (23rd Chromosome) If it is a 50/50 ratio between men and women the disorder is autosomal (any of the #1-22 chromosomes) ...
Using a HMM to Identify Ectopic Gene Conversion Events
... “Using a HMM to Identify Ectopic Gene Conversion Events” WEDNESDAY, November 16, 2005 at 11:30 AM 110 Eckhart Hall, 5734 S. University Avenue ...
... “Using a HMM to Identify Ectopic Gene Conversion Events” WEDNESDAY, November 16, 2005 at 11:30 AM 110 Eckhart Hall, 5734 S. University Avenue ...
Genetic Association Studies
... • Candidate gene association studies have greater power to identify smaller genetic effects, but rely on a priori knowledge about disease etiology. • Genome-wide association studies combine the genomic coverage of linkage analysis with the power of association to have much better chance of finding c ...
... • Candidate gene association studies have greater power to identify smaller genetic effects, but rely on a priori knowledge about disease etiology. • Genome-wide association studies combine the genomic coverage of linkage analysis with the power of association to have much better chance of finding c ...
BI0 10-3 P0WERPOINT
... • Genes that are close to each other on the same chromosome are said to be “linked.” • Genes that are linked on the same chromosome usually do not independently assort • Fruit fly was used to study linkage • When crossing over occurs, genes that are close together in location on a homologous pair ma ...
... • Genes that are close to each other on the same chromosome are said to be “linked.” • Genes that are linked on the same chromosome usually do not independently assort • Fruit fly was used to study linkage • When crossing over occurs, genes that are close together in location on a homologous pair ma ...
DNA and RNA are nucleic acids that carry out cellular
... The entire genetic content of a cell is known as its genome and the study of genomes is genomics. In eukaryotic cells, but not in prokaryotes, DNA forms a complex with histone proteins to form chromatin, the substance of eukaryotic chromosomes. A chromosome may contain tens of thousands of genes. Ma ...
... The entire genetic content of a cell is known as its genome and the study of genomes is genomics. In eukaryotic cells, but not in prokaryotes, DNA forms a complex with histone proteins to form chromatin, the substance of eukaryotic chromosomes. A chromosome may contain tens of thousands of genes. Ma ...
Name: Date: Per:______ DNA Guided Reading There are two types
... Mistakes in the process of meiosis can result in a new organism with more or fewer chromosomes than normal. Individuals with Down’s syndrome have an extra copy of chromosome twenty-one. This results in a variety of physical and/or mental conditions. Many genetic disorders are caused by recessive gen ...
... Mistakes in the process of meiosis can result in a new organism with more or fewer chromosomes than normal. Individuals with Down’s syndrome have an extra copy of chromosome twenty-one. This results in a variety of physical and/or mental conditions. Many genetic disorders are caused by recessive gen ...
Human genome
The human genome is the complete set of nucleic acid sequence for humans (Homo sapiens), encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. Human genomes include both protein-coding DNA genes and noncoding DNA. Haploid human genomes, which are contained in germ cells (the egg and sperm gamete cells created in the meiosis phase of sexual reproduction before fertilization creates a zygote) consist of three billion DNA base pairs, while diploid genomes (found in somatic cells) have twice the DNA content. While there are significant differences among the genomes of human individuals (on the order of 0.1%), these are considerably smaller than the differences between humans and their closest living relatives, the chimpanzees (approximately 4%) and bonobos. Humans share 50% of their DNA with bananas.The Human Genome Project produced the first complete sequences of individual human genomes, with the first draft sequence and initial analysis being published on February 12, 2001. The human genome was the first of all vertebrates to be completely sequenced. As of 2012, thousands of human genomes have been completely sequenced, and many more have been mapped at lower levels of resolution. The resulting data are used worldwide in biomedical science, anthropology, forensics and other branches of science. There is a widely held expectation that genomic studies will lead to advances in the diagnosis and treatment of diseases, and to new insights in many fields of biology, including human evolution.Although the sequence of the human genome has been (almost) completely determined by DNA sequencing, it is not yet fully understood. Most (though probably not all) genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products. Recent results suggest that most of the vast quantities of noncoding DNA within the genome have associated biochemical activities, including regulation of gene expression, organization of chromosome architecture, and signals controlling epigenetic inheritance.There are an estimated 20,000-25,000 human protein-coding genes. The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further. Protein-coding sequences account for only a very small fraction of the genome (approximately 1.5%), and the rest is associated with non-coding RNA molecules, regulatory DNA sequences, LINEs, SINEs, introns, and sequences for which as yet no function has been elucidated.