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Awesome website for images!!!! http://images.google.com/imgres?imgurl=http://images2.clinicaltools.com/images/gene/trisomy21.jpg&imgrefurl=http://www2.geneticsolutions.com/PageReq%3Fid%3D1530:1873%26InPopUp%3Dtrue&h=410&w=384&sz=25&hl=en&start=1 &usg=__f2IoROWsbZj5MldAwFfjlTLKn4M=&tbnid=PNE0MKvLj0wtZM:&tbnh=125&tbnw=117&prev=/images%3Fq%3Dtrisomy%2B21%2Bkaryotype%26gbv%3D2%26hl%3Den Mendel and Heredity The Origins of Genetics Mendel’s the Man! Connection: (see cell cycle on board and image of meiosis) A gene is a segment of DNA capable of producing a specific protein. A gene is found on a section of DNA ↓ This section causes a trait ↓ A trait is a physical / chemical appearances (could be trait for hair or insulin production) Hundreds or thousands of genes on one chromosome. Characteristics of a gene 1. 2. 3. 4. 5. 6. 7. Identical throughout cells of a body Same number in same species Chemical units can function individually Responsible for biosynthesis Reproduce themselves (S phase) Pass to next generation (meiosis) In the nucleus Gregor Mendel – Father of Genetics (read blurp) The man studied peas. Why? - 2 clear different forms of a trait - reproduction easy to control - small, grows easily & quickly, and there are many offspring Mendel Continued Pea plants can self pollinate and cross pollinate ♂ + ♀ (P1 = parents) male female ↓ F1 = First filial generation F1 x F1 ↓ F2 = Second filial generation Terminology Show cell cycle and how organisms has two letters • Genotype – genetic makeup, description of genes: ex. AA, Aa, aa – Homozygous: • AA, aa – Heterozygous: • Aa • Phenotype – physical expression, what it looks like: – ex. white, black, spotted Organism’s characteristics (traits) are caused by genes. There are multiple types of traits: 1. Dominant hides recessive trait identifies with upper case letter B = brown eyes Ex. Brown eyes (shows up more often) 2. Recessive Identified with lower case letter b- blue eyes Ex. Blue eyes (shows up less often) (Show cell cycle and how organisms has two letters) Law of Segregation – during meiosis genes separate so that there is only 1 gene for each characteristic in each gamete. Law of Independent Assortment – alleles of different genes (traits) separate independently of one another during gamete formation Test Cross - mating of a known genotype with unknown to help identify the unknown genotype Types of Chromosomal Mutation These occur in metaphase I, why? Name of Mutation Description Deletion A piece of a chromosome breaks off; a piece is missing Duplication A chromosome fragment breaks off and attaches to its homologous chromosome; now it carries 2 copies of same gene Inversion The chromosome piece breaks off reattaches to the original chromosome in a reverse manner Translocation The piece reattaches to a nonhomologous chromosome Great Website Sketch Notice I do not have a REAL picture of meiosis. Causes of variation in gametes (good, normal) - crossing over - random assortment of chromosomes Types of Chromosomes and Sex determination • Autosomes – chromosomes not involved in determining if an organism (you) are going to be a male or female • Sex Chromosomes – one chromosome of our 23 ( or 2 of our 46) – Female is XX (X from mom and X from dad) – Male XY – (x from mom and Y from dad) Only chromosome not “identical” to its pair (see Figure 6.5 in text) • Male gamete determines sex of fertilized egg A B C D E F deletion A B C A B C D E F D E F A B C Inversion F E D A B A B C A B C D E F D E F duplication A B C A B C D E F D E F A B C D E F A B C X translocation Z D E F A B X Z Abnormalities in Chromosome Number • Karyotype – a photo of the chromosomes in a dividing cell (See p.329) • Abnormalities in Chromosome Number, happen in anaphase I, as a result of non-disjunction – Trisomy – an extra chromosome, 3 instead of two in a pair, 47 instead of 46 in a human karyotype • Down syndrome – Trisomy 21, an extra 21st chromosome • Klinefelter’s syndrome – Male with XXY – Monosomy – missing a chromosome, havine 1 instead of 2 in a pair, 45 instead of 46 in a human karyotype • Turner’s syndrome – Female with only 1 sex chromosome, or missing part of one (XO) Traits Caused by Mutations (Mutated alleles can be passed on) • Sickle Cell Anemia – Poor blood circulation – 1:500 African Americans • Tay-Sachs disease – Deterioration of central nervous system – 1:3,500 Ashkenazi Jews – Affected die at early childhood http://www.sfn.org/SiteObjects/published/0000BDF20016F63800FD712C3158BA55/0000BDF2000006250110C68C45857663/file/bb_feb2007_la rge.jpg http://adultstemcellawareness.files.wordpress.com/2007/10/sickle-cell.jpg Traits Caused by Mutations (Mutated alleles can be passed on) • Cystic fibrosis – Mucus clogs many organs – 1:2,500 – Usually do not survive to adult hood • Hemophilia – Failure of blood to clot – 1:10,000 (white males) • Huntington’s disease http://images.google.com/imgres?imgurl=http:// www.freeinfosociety.com/images/science/physio logy/cysticfibrosis2.jpg&imgrefurl=http://www.fre einfosociety.com/site.php%3Fpostnum%3D435 &h=374&w=336&sz=31&hl=en&start=6&um=1& tbnid=3BEZHLcR5GIjM:&tbnh=122&tbnw=110&prev=/images%3 Fq%3DCystic%2BFibrosis%26svnum%3D10%2 6um%3D1%26hl%3Den – Dominant trait – Gradual deterioration of brain tissue, middle age – 1:10,000