Fundamentals of Human Genetics
Fundamentals of Human Genetics MCDB 1041
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This 23 page Class Notes was uploaded by Mrs. Willis Mante on Thursday October 29, 2015. The Class Notes belongs to MCDB 1041 at University of Colorado at Boulder taught by Staff in Fall. Since its upload, it has received 9 views. For similar materials see /class/231846/mcdb-1041-university-of-colorado-at-boulder in Molecular, Cellular And Developmental Biology at University of Colorado at Boulder.
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Date Created: 10/29/15
MCDB 1041 Class 2 Some general principles of genetics and cells Announcements don39t forget to complete the online survey Homework 1 is posted on CU Learn but is not due until midnight Monday 98 Whenquot Words pop i n l39o your head when you hear The word genetics What do you Think when you look at These kids Physical Trai rs are determined by genes The field of genetics uses a lot of Terminology You need to know some of this quotlanguagequot in order to learn about genetics Talk with the people around you about these two terms phenotype and genotype Decide on a good definition for each word Why is it important to distinguish between these two terms Your mom and dad are both free of any genetic diseases as are you Is it possible for you to have a sibling with the genetic disease cystic fibrosis a Yes b No Many diseases are quotrecessivequot someone can be a carrier of the disease geno pe but not have a disease phenotype Genes are the basic unit of inheritance are composed of DNA deoxyribonucleic acid direct the formation of proteins Deoxyribonucleic acid DNA A polymer chain Twisted into a double helix Genetic diseases are the result of mutations in genes which then produce proteins that don39t work properly different proteins have widely different functions 0 enzymes break down proteins or other cellular components like lipids or sugars 0 channels lets things flow in and out of cells 0 receptor binds to another protein causes a change in the cell So to think about genetics we have to know something about the components of cells Cells Your body is a collection of millions of cells each with a specific function When cells don39t function properly you don39t function properly Carbohydrate molecule Cell membrane Normal 6 1 7 Sickled Abnormal rad blood membrane a protein Muscular dystrophy o Sickle cell anemia Cystic flbf OSlS All life is cellular but cells are different in different kinds of organisms Nuclear envelope Nucleolus Nuclear ore p Rough endoplasmic RIbOSOI ne139 reticulum Centrioles Microfilament Nucleus Lysosome J eroxisome Btoplasm Microtubule Fig 23 A Typical animal cell Cell membrane Smooth endoplasmic reticulum What are the three basic parts of a cell Cell membrane separates cell contents from outside Organelles membranebound compartments performing specialized functions Cytoplasm fluid contents inside cell membrane filled with small molecules Cell membranes Why have them What is important about them Prevents random passage of molecules back and forth Allows for control over information that the cells receive and send Close up view of a membrane a Yd ophlllc phospholipid bilayerquot ea Hydrophobic 39 tail V Nuclear pore Inside Fig 24 unclear nucleus envelope Proteins made by the cell are embedded in the membrane Extracellular lluid These membrane proteins are important 7 J 1 it Carbohydr V chain 4 r3 Cystic Fibrosis in a channel that normally controls flow of Cl across the membrane In cystic fibrosis the salt imbalance causes the layers of mucus that line many organs to thicken which can trap bacteria and lead to chronic infections The Nucleus The organelle we will focus on The mosT e nucleus confains chromosomes Chromosomes are made of DNA wrapped around profein They have 0 be wrapped up or quotcondensedquot to fit inside fhe nucleus How many chromosomes are in fhe nucleus of a normal human cell a 2 b 4 23 Pm amp O Human Chromosomes 33S H H n 2 3 4 ii ti it it it 1 11 Everyone has 22 pairs of aufosomes Women also have 1 pair of X5 Men have on X and Y 6 P 8 9 1 sex chromosomesquot I quot3 I39I 13 14 15 16 1 1 1 I l 1 i 1 19 20 x v 21 Total of 46 5 13 i 13 5 22 We inherit our genetic makeup or genes from our parents by inheriting a chromosome of each type number from each of our parents A a Chromosome 1 from Dad I Chromosome 1 from Mom These two chromosomes are often referred to as a pair of chromosome Isquot The correct term for them is homologous chromosomesquot Homologous chromosomes have aThe some genes bDifferent genes Homologous chromosomes and alleles A a Chromosome 1 from Dad I Chromosome 1 from Mom A and a are called quotallelesquot variants of the same gene This means they differ slightly but are still the same gene located in the same place on the chromosome Newspaper analogy Genome The complete set of genetic information for an organism a genome includes all of the genes present in an organism and all the other DNA sequences that do not encode genes The human genome contains 3 x 109 DNA nucleotides What do you think How many genes are there in the human genome a About a million bAbout 80000 c About 30000 d About 3000 eAbout 1000 The average gene is about 3000 bases of DNA Conclusion Genes make up only a small fraction of the genome Look at your neighbor Approximately what portion of your genome do you think is identical to your neighbor Less than 25 50 75 90 Greater than 90 NQPU D DOUBLE TAKES Io Copynghl 19911 Robcn Manan u I think you two should hit if off you have 98 of your DNA in common Class is here on Friday see you Then
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