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I. DeCODE- biotech company that was given permission to access and organize medical records of residents into a health sector database. Issue with this: privacy, consent, commercialism, profitII. Genetics- scientific study of hereditya. Uses basic research and applied scienceIII. Trait- any observable property of an organismIV. Gene- the fundamental unit of heredity and the basic structural unit of geneticsV. DNA- a helical molecule consisting of 2 strands of nucleotides that is the primary carrier of genetic informationVI. Adenine- Thymine and Guanine- CytosineVII. Genes can:a. Be replicatedb. Undergo changec. Be switched on or off (expressed)d. Recombine (move from one chromosome to another)VIII. Cytogenetics- branch of genetics, studies the organization and arrangement of genes and chromosomes by using microscopyIX. Karyotype- complete set of chromosomes from a cell that has been photographed during cell division and arranged in a standard sequenceX. Gene therapy- procedure in which normal genes are transplanted into humans carrying defective copies, as means of treating genetic diseasesXI. Genome- the set of DNA sequences carried by an individual, Human Genome- the entire set of DNA sequences in the human raceXII. Eugenics- started by Galton. Claimed that applying the principle of natural selection, the human race could be improved using selective breeding--- Totally WRONGXIII. Hereditarianism- the belief that all human traits are determined ONLY by genesXIV. Haplotype- a set of genetic markers located close together on a single chromosome/regionXV. Stem Cell Researcha. Derived from early embryos or adult tissuesb. Stem cells divide in the embryo to form 200 different cell types that can become parts of the tissues/organs in the bodyXVI. Biotechnology- the use of recombinant DNA technology to produce commercial goods and servicesI. Macromoleculesa. large cellular polymers assembled by chemically linking monomers togetherb. Four Classes:i. Carbohydrates- sugars, glycogens, starches. Function: structure, energy source, molecular identityii. Lipids- fats and oils, phospholipids, steroids. Function: structural component of membrane, energy reserve, hormones, vitaminsiii. Proteins- polymers made up of one or more chains of subunitsiv. Nucleic Acids- polymers made from nucleotide subunits. DNA, RNA. Function: store genetic informationII. Cells differ by:a. Sizeb. Shapec. Functiond. Life cycleIII. Cell Organellesa. Nucleus- contain genetic informationb. Nucleolus- produces ribosomesc. E.R.- smooth produces phospholipids, rough synthesizes protiensd. Ribosomes- produce proteinse. Golgi Complex- sorts, modifies, and packages proteinsf. Lysosome- digests unwanted materialsg. Mitochondria- breaks down glucose and produces ATPIV. Cell Cyclea. Interphase- between mitotic divisioni. G1ii. Siii. G2b. Mitosis- produces 2 exact daughter cellsi. Prophaseii. Metaphaseiii. Anaphaseiv. Telophasec. Cytokinesis- cytoplasm dividesV. Diploid- 2n. Each chromosome is represented twiceVI. Haploid- n. Each chromosome is represented onceVII. Homologous Chromosomes- physically associate during meiosis. Have identical gene lociVIII. Meiosis 1 reduces the chromosome number to haploid; Meiosis II begins with haploid cells and separates sister chromatidsIX. Assortment- resut of meiosis I that puts random combinations of maternal and paternal chromosomes into gametesX. Crossing over- process in which chromosomes physically exchange partsXI. Spermatids- the 4 haploid cells produced by meiotic divisionXII. 5% of children born with some genetic diseaseXIII. Chromosomes- threadlike structure in the nucleus, wrapped around proteinsI. Dominant- trait expressed in a heterozygous condition; Recessive- trait unexpressed in a heterozygous condition but expressed in a homozygous recessive conditionII. Homozygous- having identical alleles; Heterozygous- having 2 different alleles for a traitIII. Phenotype- observable properties of an organism; genotype- specific genetic construction of an organismIV. Punnett squares are used to predict possible combinations for genotypesV. Probability= (# ways it can happen) / (total # of outcomes)VI. Locus- the position occupied by a gene on a chromosomeVII. Pedigree- a diagram listing the members and ancestoral relationships in a familyi. Squares= Males, Circles=Femalesii. Phenotype in question=filled in symboliii. Heterozygotes=shaded dot inside a symbol, or a half-filled symboliv. Roman numerals=generations, Arabic numbers=birth order in generationVIII. Epistasis- the interaction of 2 or more non-allelic genes to control a single phenotype (the action of one gene masks another gene)IX. Incomplete Dominance- expression of a phenotype that is intermediate to those of the parent (red + white  pink)X. Hayflick Limit- cells can only divide about 50 timesi. Adult cells divide 10-30 timesii. Embryonic stem cells divide unlimited timesXI. Diseases associated with cell division:i. Progeriaii. Werner Syndromeiii. Robert’s syndromeXII. Meiosisi. Takes place in germ cellsii. Produces gametesiii. Diploid becomes haploidXIII. Rh Factori. Positive- can make the antigenii. Negative- can’t make the antigeniii. Hemolytic Disease of the Newborn- condition when the mother is Rh- and the baby is Rh+XIV. Incomplete Penetrance- mutant genotype, has wild-type phenotypeXV. Codominance- a condition in which both alleles of a gene pair are fully expressed, neither being dominant or recessive to the other (pink + red  pink&red both shown in offspring)I. Single Locus Inheritance:I. Autosomal RecessiveParents usually unaffectedAll children of 2 affected individuals are affectedExamples: cystic fibrosis, albinism, sickle cell anemiaII. Autosomal DominantHave at least 1 affected parentPhenotype of homozygous is more severe than heterozygousExamples: Marfan syndrome, Huntington disease, Ehler-DanlosIII. X Linked DominantAffected males transmit to all daughters but not to sonsAffected females transmit to 50% of children2x many females affected than malesIV. X Linked RecessivePhenotype expression is more common in malesAffected males receive allele from mother and transmit to all daughters but no sonsExamples: color blindness, muscular dystrophy, hemophilia a & bV. Maternal MitochondiaPassed from mother to child through cytoplasm of eggAll of your mitochondria come from your motherII. Hemizygous- a gene present on the x chromosome that is expressed in males in both the recessive and dominant

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MSU ZOL 141 - Chapter 1

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