UNIT 8 : GENETICS

1. UNIT 8: GENETICS

2. What is the molecule responsible for passing on hereditary traits? What is it’s structure? • Deoxyribonucleic Acid (DNA) is a nucleic acid that contains genetic instructions used in the development and functioning of all known living organisms and some viruses • The main role is the long-term storage of information. • DNA is often compared to a set of blueprints Nucleotide Functional unit: _____________________ Phosphate a Deoxyribose b Nitrogen Base Pairs (A, T, C, G) c (Sticks and curves) T Twisted in to a double helix A C G 2 DNA consists of ________ complementary chains of nucleotides The DNA ladder consists of: U______________: alternating phosphates and deoxyribose R_________: Pairs of nitrogen bases held together by weak Hydrogen bonds ADENINE always pairs with THYMINE CYTOSINE always pairs with GUANINE Railing -- -- Steps

3. 3. How does DNA replicate (make more copies of itself) Splits The ladder __________________ It breaks apart at the weakHydrogen Bonds between the bases. Newly synthesized nucleotides line up by _________ ________________ Base Pairing Two new strands of DNA Result: ___________________________________ Identical to the first strand and to each other.

4. 4. What is a gene? Gene: __________________________ Gene pool: __________________________ DNA Coding for 1 protein All available genes in a population 5. What is gene chromosome theory? Genes • exist at different loci (permanent locations) in a linear fashion on chromosomes. • Two genes associated with a specific characteristic are known as _____________ and are located on homologous chromosomes alleles DOMINANT ALLELE: Always exerts full effect, will mask the other gene characteristics RECESSIVE ALLELE: The gene is present, but not always expressed Different combinations of alleles result in different patterns of inheritance: GENOTYPE: Describes the genetic combination HOMOZYGOUS: two of the same alleles HETEROZYGOUS: two different alleles PHENOTYPE: Describes the physical appearance Pair of alleles Individual genes 6. Can offspring have traits that are different than their parents

5. Loci for a single allele Location

6. How many genes are on a single chromosome? • A Lot! • Chromosome 1 • Contains over 3000 genes • Contains over 240 million base pairs, of which ~90% have been determined • These things are mapped out on chromosome maps

7. 4. What is a gene? Gene: __________________________ Gene pool: __________________________ Codes for 1 protein All available genes 5. What is gene chromosome theory? Genes • exist at different loci (permanent locations) in a linear fashion on chromosomes. • Two genes associated with a specific characteristic are known as _____________ and are located on homologous chromosomes alleles DOMINANT ALLELE: Always exerts full effect, will mask the other gene characteristics RECESSIVE ALLELE: The gene is present, but not always expressed Different combinations of alleles result in different patterns of inheritance: GENOTYPE: Describes the genetic combination HOMOZYGOUS: two of the same alleles HETEROZYGOUS: two different alleles PHENOTYPE: Describes the physical appearance __ __ Pair of alleles ____ __ _____ _____ Individual genes __ __ What you can see 6. Can offspring have traits that are different than their parents TT Can Roll Tongue tt Cant roll tongue Can Roll Tongue Tt

8. Tongue Roller T t T t T t T T t T t t Tongue Roller NOT a tongue Roller!

9. 7. What insights did Mendel give us into patterns of inheritance? In the 18th century, an Austrian monk and teacher Gregor Mendel developed some basic principles of heredity without any knowledge of genes or chromosomes. He experimented with pea plants. As a result of mathematical analysis of ratios associated with characteristics in the offspring, Mendel proposed that characteristics were inherited as a result of the transmission of hereditary factors. When an individual pure for the dominant trait is crossed with an individual pure for the recessive trait, the physical appearance of the offspring is like that of the dominant parent. Dominance Law of ____________________: When gametes are produced, the genes separate so that each gamete receives only one copy. A gamete will receive one allele or the other. The direct proof of this was later found when the process of meiosis came to be known. Segregation Law of ____________________: PUNNETT SQUARE SOLUTIONS: Hybrid = 2 together Stem Length: Seed Color: Seed Shape: Pure Tall X Pure Short Hybrid yellow X pure green Monohybrid cross T T Y y R r Y y yy RR t t Tt Tt R r Rr y y yy Tt Tt Y y Rr rr

10. Dominance • Dominant allele represented by a Capital Letter • Always masks over any recessive alleles • For example: Tongue Rolling (T) Not tongue rolling (t) Tt = what phenotype? (remember phenotype and physical appearance)

11. Segregation • Every person has two alleles for any given trait (one from the mom, one from the dad) • Offspring will get either one of those • Ex: • Of a mom is Tt for tongue rolling she can give either the T or the t, and this is determined by chance. • Same for the father with Tt. He can give T or t • This is demonstrated by a punnett square

12. Warm up • Complete this punnett square: Cc C c Cc C C Cc c c What if “c” was a recessive disease? What are the chances of an offspring getting the disease in this example?

13. 8. What are some genetic diseases caused by recessive alleles • SICKLE CELL ANEMIA • Causes red blood cells to be shaped like sickles, they get stuck in the capillaries and deprive body cells of oxygen. • Rare in the USA, but common in some African countries. This is because carriers of the disease are more immune to malaria. Hence, being a carrier increased chance of survival. • CYSTIC FIBROSIS • Affects about 1 in 1600 people in the USA • It is caused by a recessive defective gene inherited from both of the parents. • The result is that the body produces thick sticky mucus in the lungs which has to be removed • Excessive mucous occurs in the pancreas causing digestive problems • The most serious problem is the blockage of air passages in the lungs, results in many infections • Both parents must carry the gene, and there is a 1 in 4 chance of their child being born with CF C c S s Ss Cc CC Cc Cc cc 50% carriers SS Ss Ss ss 25% with Disease More complex! 9. Are there other patterns of inheritance? Are the relationship between genes and traits more complex than Mendel’s Laws illustrate with peas? each person only inherits 2 MULTIPLE ALLELES MORE THAN TWO ALLELES ARE INVOLVED BLOOD TYPES in humans. Three possible alleles: ____ ____ ____ EACH INDIVIDUAL INHERITS SOME COMBINATION OF 2 ALLELES IA IB i Sample Crosses: Mom: Type AB Mom: Type O Dad: Type B Dad: Type B His mom type o IA IAIAi ii IA IB IBIB IB i IB i IB i B B O O IA IB AB B A B ii

16. 10. Can patterns of heredity can be more complex? • CROSSING OVER during MEIOSIS & GAMETE FORMATION increases variety • CONTINUOUS VARIATION • Results when several genes influence a trait • Height: TTTTTTT --------- tttttttt • Skin Tone • Many different variations of the trait are expressed Can environment influence heredity? Can certain environmental conditions alter phenotypes? Plants require sun to “turn on the gene” produce green chlorophyll. In the absence of sun, the gene will not be expressed, and the plants will be white. 2. Pigment producing genes of the arctic fox do not function in the winter due to the cold temperature. In the warmer summer, the genes function As a result, the fur is white in the winter and to produce a reddish-brown pigment. the animals blend in to the background. Now the fox resembles the tundra of summer When an icepack is placed on the shaved skin of a Himalayan hare, the fur grows in dark. TWIN Studies (upbringing means the same thing as environment) Twin’s genes are identical, so any difference between them must be caused by slight differences in their environment throughout their lives. Ex: Height differences due to differences in nutrition Muscular development in an athlete. NOTE:only changes in DNA of the sex cells can be passed on to the next generation