ZOL 141 Chapter 1 A Perspective on Human Genetics 04 08 2014 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 profit II Genetics scientific study of heredity a Uses basic research and applied science III Trait any observable property of an organism IV Gene the fundamental unit of heredity and the basic structural unit of genetics V DNA a helical molecule consisting of 2 strands of nucleotides that is the primary carrier of genetic information VI Adenine Thymine and Guanine Cytosine VII Genes can a Be replicated b Undergo change c 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 microscopy IX Karyotype complete set of chromosomes from a cell that has been photographed during cell division and arranged in a standard sequence X Gene therapy procedure in which normal genes are transplanted into humans carrying defective copies as means of treating genetic diseases XI Genome the set of DNA sequences carried by an individual Human Genome the entire set of DNA sequences in the human race XII Eugenics started by Galton Claimed that applying the principle of natural selection the human race could be improved using selective breeding Totally WRONG XIII Hereditarianism the belief that all human traits are determined ONLY XIV Haplotype a set of genetic markers located close together on a single by genes chromosome region XV Stem Cell Research a Derived from early embryos or adult tissues b Stem cells divide in the embryo to form 200 different cell types that can become parts of the tissues organs in the body XVI Biotechnology the use of recombinant DNA technology to produce commercial goods and services Chapter 2 Cells and Cell Division 04 08 2014 a large cellular polymers assembled by chemically linking monomers I Macromolecules together b Four Classes i Carbohydrates sugars glycogens starches Function structure energy source molecular identity ii Lipids fats and oils phospholipids steroids Function structural component of membrane energy reserve hormones vitamins iii Proteins polymers made up of one or more chains of subunits iv Nucleic RNA Function store genetic information Acids polymers made from nucleotide subunits DNA II Cells differ by a Size b Shape c Function d Life cycle III Cell Organelles a Nucleus contain genetic information b Nucleolus produces ribosomes c E R smooth produces phospholipids rough synthesizes protiens d Ribosomes produce proteins e Golgi Complex sorts modifies and packages proteins f Lysosome digests unwanted materials g Mitochondria breaks down glucose and produces ATP IV Cell Cycle a Interphase between mitotic division b Mitosis produces 2 exact daughter cells i G1 ii S iii G2 i Prophase ii Metaphase iii Anaphase iv Telophase c Cytokinesis cytoplasm divides V Diploid 2n Each chromosome is represented twice VI Haploid n Each chromosome is represented once VII Homologous Chromosomes physically associate during meiosis Have identical gene loci VIII Meiosis 1 reduces the chromosome number to haploid Meiosis II begins with haploid cells and separates sister chromatids IX Assortment resut of meiosis I that puts random combinations of maternal and paternal chromosomes into gametes X Crossing over process in which chromosomes physically exchange parts XI Spermatids the 4 haploid cells produced by meiotic division XII 5 of children born with some genetic disease XIII Chromosomes threadlike structure in the nucleus wrapped around proteins Chapter 3 Transmission of Genes 04 08 2014 I Dominant trait expressed in a heterozygous condition Recessive trait unexpressed in a heterozygous condition but expressed in a homozygous II Homozygous having identical alleles Heterozygous having 2 different recessive condition alleles for a trait III Phenotype observable properties of an organism genotype specific genetic construction of an organism IV Punnett squares are used to predict possible combinations for genotypes V Probability ways it can happen total of outcomes VI Locus the position occupied by a gene on a chromosome VII Pedigree a diagram listing the members and ancestoral relationships in a family i Squares Males Circles Females ii Phenotype in question filled in symbol iii Heterozygotes shaded dot inside a symbol or a half filled symbol iv Roman numerals generations Arabic numbers birth order in generation VIII 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 times i Adult cells divide 10 30 times ii Embryonic stem cells divide unlimited times XI Diseases associated with cell division i Progeria ii Werner Syndrome iii Robert s syndrome XII Meiosis i Takes place in germ cells ii Produces gametes iii Diploid becomes haploid XIII Rh Factor i Positive can make the antigen ii Negative can t make the antigen iii Hemolytic Disease of the Newborn condition when the mother is Rh and the baby is Rh XIV Incomplete Penetrance mutant genotype has wild type phenotype XV 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 Chapter 4 04 08 2014 I Single Locus Inheritance I Autosomal Recessive o Parents usually unaffected o All children of 2 affected individuals are affected o Examples cystic fibrosis albinism sickle cell anemia II Autosomal Dominant o Have at least 1 affected parent o Phenotype of homozygous is more severe than heterozygous o Examples Marfan syndrome Huntington disease Ehler Danlos III X Linked Dominant o Affected males transmit to all daughters but not to sons o Affected females transmit to 50 of children o 2x many females affected than males IV X Linked Recessive o Phenotype expression is more common in males o Affected males receive allele from mother and transmit to all daughters but no sons o Examples color blindness muscular dystrophy hemophilia a b V Maternal Mitochondia o Passed from mother to child through cytoplasm of egg o All of your mitochondria come from your mother II Hemizygous a gene present on the x chromosome that is expressed in males