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Summary - An Introduction to Genetic Analysis
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1 The Genetics Revolution
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What is genomics?The study of the structure and function of entire genomes.
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1.1 The birth of genes
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What is the blending theory?The belief that inheritance worked like mixing paint. When you mix red with blue you get purple. So a tall parent and a short parent would get a medium hight child.
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1.1.1 Gregor mendel
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What did mendel conclude from his experiments with pea plants?1. Genes behave like particles and don't blend.
2. One allele is dominant to the other. -
Genes used to be known as Mendel's particals.
Alleles are gene-variants. -
Somatic cells are cells of the body.
Gametes are sex cells. -
What was the experiment Mendel did?Crossing purple and white pea plants to get a first generation hybrid. He self pollinated this plant to get second-generation hybrids.
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1.1.2 mendel rediscovered
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What is genetics?The study of inheritance
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What is the multifactorial hypothesis?The insight that some traits are controlled by multiple genes.
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What is the one-gene-one-enzyme hypothesis?The proposal that genes encode for enzymes that are required for different function in the body.
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Where is genetic information stored in the body?In DNA in the nucleus of a cell.
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DNA exists of a backbone of sugar and
phosphate groups and four bases: Adenine, Guanine,Thymine & Cytosine. -
Adenine and Thymine have a double hydrogen bond.
Guanine and Cytosine have a triple hydrogen bond. -
DNA is a double helix in which the nucleotide bases of one strand are paired complementary with those of the other strand.
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How are genes regulated?Genes have regulatory elements that control gene expression (whether a gene is turned on or of)
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Genes reside on chromosomes and are made of DNA. Genes encode proteins that conduct the basic enzymatic work within the cells.
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1.1.3 The central dogma
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What is the central dogma?The flow of genetic information within cells. From DNA being replicated or transcribed to mRNA, then translated to a protein.
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1.2.1 Model organisms
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What is a model organism?A species used in experimental biology with the presumption that what is learned from the analysis of that species will hold true for other species.
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Features that make species suitable as a model organism:
- Small organism
- Short generation time
- Small genome
- Are easy to mate and produce large numbers of offspring
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Summary - An Introduction to Genetic Analysis
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1 Gene expression:
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What are the 4 classes of non-protein-coding (functional) RNAs in humans?tRNA, rRNA, snRNA, miRNA, siRNA (piRNA)
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Which two classes of functional RNAs are found in both prokaryotes and eukaryotes?Transfer RNA, Ribosomal RNA
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Which class of functional RNAs participate in the processing of RNA, specific to eukaryotes?Small nuclear RNA (snRNA)
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Which classes of functional
RNA suppres gene expression and also maintain genome stability?MicroRNA (miRNA), Small interfering RNA (siRNA) and kiwi-interacting RNA (piRNA) -
1.1 RNA
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What is the definition of functional RNAs?The RNA itself is the final functional product and are never translated into protein
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What is the function of tRNA?Transfer RNA is responsible for bringing the correct amino acid to the mRNA in the process of translation
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Which functional RNAs are involved in protein synthesis?tRNA, rRNA
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What is the function of rRNA?Molecules that are the major components of ribosomes, which guide the assembly of the amino acid chain by the mRNA and tRNA
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tRNA and rRNA are involved in?Protein synthesis
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What is the function of small nuclear RNAs?Processes RNA transcripts in eukaryotic cells
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Which functional RNA is involved in RNA processingSmall nuclear RNAs
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Which functional RNA unites with several protein subunits to form the ribonucleoprotein processing complex (spliceosome) that removes introns from eukaryotic mRNA?Small nuclear RNAs
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Which functional RNAs suppress the expression of genes?MicroRNAs
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Which functional RNAs maintain genome stability?Small interfering RNA and piwi interacting RNA
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What is the role of miRNA?Regulating the amount of protein produced by many eukaryotic genes
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Which functional RNAs prevent the spread of transposable elements to other chromosomal loci?SiRNA, piRNA
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What is the function of siRNA's?Inhibit the production of viruses and restrain transposable elements in plants
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What is he function of piRNA?Inhibit the production of viruses and restrain transposable elements in animals.
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SiRNA and piRNA are involved in?Genome defense
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Which functional RNAs perform a role in genome defense?SiRNA, piRNA
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1.2 Transcription
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Name the 3 classes of RNA polymerases in eukaryotes?RNA polymerase I, RNA polymerase II, RNA polymerase III
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By which enzyme is each ribonucleotide positioned opposite its complementary base?RNA polymerase
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which gene transcribes RNA polymerase I?rRNA genes (excluding 5S rRNA)
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Which gene transcribes RNA polymerase IIAll protein encoding genes, like mRNA and some snRNA, miRNAs
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Which gene transcribes RNA polymerase III?Small functional RNA genes, as tRMA, snRMA and 5S rRNA
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Latest added flashcards
What is the sum rule?
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What is the product rule?
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How are X-linked dominant disorders recognised?
- Affected males pass the condition to all their daughters but not their sons.
- Affected heterozygous females mating with unaffected males pass the condition to half their sons and daughters.
How are X-linked recessive disorder recognised?
- Many more male than females show the rare
phenotype . - None of the offspring of an affected male show the
phenotype but all his daughters are carriers. In the next generation half the sons of these females show thephenotype . - None of the sons of an affected male show the
phenotype , nor are they carriers.
What is polymorphism?
The coexistance of two or more reasonably common phenotypes of a biological property in a population.
How can you recognise a autosomal dominant disorder?
Autosominal dominant disorders show affected females and males in each generation; they also show affected men and woman transmitting the condition to equal proportions of their sons and daughters.
How is a autosmal recessive disorder revealed?
By the appearance of the disorder in the male and female progeny of unaffected parents.
How is sex-linked inheritance recognised?
By different phenotypic ratios in the two sexes of progeny, as well as different ratios in reciprocal crosses.
What are pseudoautosomal regions 1 and 2?
Small homologous regions on the sex chromosomes that are autosomal like.
Wht are the two types of sex linkage?
- X-linkage when the gene is on the X-chromosome
- Y-linkage when the gene is on the Y-chromosome
