* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download CAUSE - Cloudfront.net
Public health genomics wikipedia , lookup
Therapeutic gene modulation wikipedia , lookup
Population genetics wikipedia , lookup
Genome evolution wikipedia , lookup
Gene therapy of the human retina wikipedia , lookup
Y chromosome wikipedia , lookup
Epigenetics of human development wikipedia , lookup
Cell-free fetal DNA wikipedia , lookup
Polycomb Group Proteins and Cancer wikipedia , lookup
Dominance (genetics) wikipedia , lookup
Vectors in gene therapy wikipedia , lookup
No-SCAR (Scarless Cas9 Assisted Recombineering) Genome Editing wikipedia , lookup
Skewed X-inactivation wikipedia , lookup
Neocentromere wikipedia , lookup
Site-specific recombinase technology wikipedia , lookup
Genetic code wikipedia , lookup
Saethre–Chotzen syndrome wikipedia , lookup
Artificial gene synthesis wikipedia , lookup
Epigenetics of neurodegenerative diseases wikipedia , lookup
Designer baby wikipedia , lookup
Oncogenomics wikipedia , lookup
X-inactivation wikipedia , lookup
Neuronal ceroid lipofuscinosis wikipedia , lookup
Genome (book) wikipedia , lookup
Frameshift mutation wikipedia , lookup
Inheritance Patterns and Human Genetics Chapter 12-1 & 12-2 The sequence of A’s, T’s, G’s & C’s ORDER of amino acids in tells the _______ ________ the ________ protein Changes in the gene code _______________ change the protein that is made A change in the genetic code = MUTATION ________________ KINDS OF MUTATIONS SOMATIC CELLS BODY ________ CELLS = ___________ Somatic cell mutations can: ______________________ Cause cancer Make cell not able to function ______________________ _____________ Kill cell WON’T BE passed on to offspring BUT _________ Kinds of Mutations GAMETES ___________ (sperm & eggs) GERM = _________cells CAN BE passed Germ cell mutations ________ on to offspring http://anthro.palomar.edu/biobasis/images/meiosis.gif MUTATIONS can be: ____________ HARMFUL - Mutations that produce defective proteins are usually harmful. ______________ Harmful mutations are associated with many genetic disorders and can cause ________________ ____________ cancer MUTATIONS can be: ____________ - Some mutations LETHAL change proteins that are so vital to life that they cause death, usually before birth. KINDS OF MUTATIONS Mutations that produce changes in a single gene = GENE MUTATIONS _________________ Mutations that produce changes in whole chromosomes = CHROMOSOMAL MUTATIONS _____________________ GENE MUTATIONS Mutations involving ________________ One or a few ____________ = __________________ nucleotides Point mutation because they occur at a single point in the DNA sequence. TYPES OF POINT MUTATIONS: _____________________ substitutions deletions _____________________ insertions _____________________ SUBSTITUTION Changes one base for another ATTCGAGCT ATTCTAGCT How many amino acids get changed? DELETION Piece of DNA code is lost ATTCGAGCT ATTCAGCT How many amino acids get changed? INSERTION Extra piece of DNA is added ATTCGAGCT ATTCGCAGCT How many amino acids get changed? GENE MUTATIONS Substitutions usually affect no more than a Amino acid single ____________, but deletions and insertions can have a more dramatic effect. IMAGE FROM BIOLOGY by Miller and Levine; Prentice Hall Publishing©2006 FRAME SHIFT MUTATIONS Change multiple bases in code thefatcatatetherat the fat cat ate the rat ____________________ INSERTION thefatcataatetherat the fat cat aat eth era t DELETION thefatcatatetherat the fat ata tet her at FRAME SHIFTS Frame shift mutations change every Amino acid ___________ in the ___________ protein that follows the shift. Frame shifts can alter a protein so function much it is unable to _____________ Location of the shift is important! AT BEGINNING the fat cat ate the rat the fac ata tet her at AT END the fat cat ate the rat the fat cat ate thr at BEGINNING MUTATIONS AT _____________OF GENE DAMAGE __________ OF THE CODE! MORE CHROMOSOMAL MUTATIONS Mutations involving changes in the Number structure _____________ or ______________ of whole chromosomes TYPES OF CHROMOSOMAL MUTATIONS: _____________________ deletions duplications _____________________ inversions _____________________ translocations _____________________ DELETION Piece of chromosome is lost ________________________________________ DUPLICATION Piece of DNA is copied too many times ________________________________________________ INVERSION Segment flips and reads backwards TRANSLOCATION Segment breaks off and joins a different non-homologous chromosome POLYPLOIDY Condition in which an organism has extra sets of chromosomes POLYPLOIDY = _______________ LETHAL __________ in humans, but beneficial in some ___________. plants A mutation that causes a protein to be NON-FUNCTIONAL would appear RECESSIVE _______________ to the normal working allele. AUTOSOMAL RECESSIVE Examples of __________________________ GENETIC DISORDERS: PHENYLKETONURIA (PKU) ____________________ TAY-SACHS DISEASE ____________________ CYSTIC FIBROSIS ____________________ Phenylketonuria (PKU) CAUSE: ENZYME Mutation in gene for an ___________ that __________ called breaks down an ___________ amino acid phenylalanine X X MENTAL RETARDATION Build up causes ________________________ http://biology.clc.uc.edu/courses/bio104/protein.htm TAY-SACHS DISEASE AUTOSOMAL RECESSIVE ___________________ CAUSE: Mutation in gene for an ___________ ENZYME that breaks down a kind of _________in the LIPID developing _________ BRAIN Build up of lipids in brain cells leads to: mental retardation, blindness, and DEATH in early childhood heterozygous person A __________ who carries a recessive allele for a _________ genetic disorder, but doesn’t show ______________ the disorder themselves is called a CARRIER _____________ http://www.biochem.arizona.edu/classes/bioc460/spring/rlm/RLM36.1.html CYSTIC FIBROSIS CAUSE: Loss of 3 DNA bases in a gene for the _____________ that transports _________ so protein Cl- ions salt balance is upset thick mucous Causes a build up of _________________ in lungs and digestive organs Image from: BIOLOGY by Miller and Levine; Prentice Hall Publishing ©2006 CYSTIC FIBROSIS http://learn.genetics.utah.edu/content/disorders/whataregd/cf/index.html CYSTIC FIBROSIS Leads to: _________ and _________ respiratory digestive complications, increased susceptibility to infections; Salty skin is a symptom “__________” 30,000 people in U.S. have cystic fibrosis 1 in 31 people are carriers A mutation that codes for a new protein whose action masks the normal allele appears as a ______________ DOMINANT mutation. AUTOSOMAL DOMINANT Examples of _________________________ GENETIC DISORDERS: Huntington’s disease ____________________ Achondroplasia ____________________ HUNTINGTON’S DISEASE AUTOSOMAL DOMINANT ______________________ CAUSE: CAG repeats at end of gene Extra 40-100 ______________ on chromosome 4 more repeats . . . the more __________ severe The _____________ the symptoms. http://www.healthsystem.virginia.edu/internet/huntdisease/images/cag.gif HUNTINGTON’S DISEASE Huntington’s brain loss Causes progressive _____ muscle control of ________________ and mental ___________function 1 in 10,000 people in U.S. have Huntington’s disease Normal brain http://www.scielo.br/img/revistas/bjmbr/v39n8/html/6233i01.htm A person with Huntington’s disease 50% chance of has a _____ passing the disorder on to their offspring. Problem: Symptoms of disorder usually don’t show until ____________ MIDDLE AGE . . . so you don’t know you have it until ________ AFTER you have had children. ACHONDROPLASIA (One kind of Dwarfism) AUTOSOMAL DOMINANT CAUSE: ___________________________ gene 1 in 20,000 births ACHONDROPLASIA (One kind of Dwarfism) Normal size head and torso; short arms and legs Problem with way cartilage changes to bone as bones grow DISORDERS CAUSED AUTOSOMAL CODOMINANT ALLELES BY ____________________ SICKLE CELL DISEASE ____________________ CAUSE: A changed to T in gene for HEMOGLOBIN __________________ (protein in red blood cells that carries oxygen in blood) SICKLE CELL DISEASE SYMPTOMS: RED BLOOD CELLS become sickle _____________ TWO shaped in persons with ______ ALLELES sickle cell ________ A person who is __________________ for HOMOZYGOUS the ____________allele (ss) will have sickle cell _______________ sickle disease HOMOZYGOUS A person who is _________________ for normal hemoglobin alleles will have normal blood cells, but can become infected with malaria __________ (SS) HETEROZYGOUS person (Ss) A _________________ (with one normal/one sickle cell allele) is generally healthy and has the benefit of resistant to malaria being _________ Chromosomes that determine the sex of an organism = _________________ Sex chromosomes http://www.angelbabygifts.com/ All other chromosomes = _________________ autosomes Humans have two sex chromosomes X y and _____ 44 autosomes SEX DETERMINATION XX = female Xy = male Who decides? Mom can give X Dad can give X or y X X X XX XX y Xy Xy Dad determines sex of the baby. SO ____ If dad gives X with mom’s X = girl If dad give y with mom’s X = boy PEDIGREES _______________are diagrams genes are passed that show how are ____________ in families on __________ over several generations Drawing a pedigree chart SEX CHROMOSOMES CAN CARRY OTHER GENES TOO = ___________________ SEX LINKED TRAITS These traits show up in different _______________ in males and females percentages because they move with the sex chromosomes Y-LINKED GENES: carried on Y Genes ______________ chromosome EXAMPLE: Hairy pinna ONLY show up _______ in males Y linked _________genes _____ X-LINKED GENES: ____________ are carried on the X chromosome X-linked recessive disorders MORE frequently show up _____________ in MALES ______ than females because males only have ONE X chromosome. ______ Males ONLY HAVE ONE X DEFECTIVE They either have the disorder NORMAL Or They are normal FEMALES HAVE TWO X CHROMOSOMES DEFECTIVE NORMAL DEFECTIVE Females have one normal gene that works. need 2 Females __________ defective recessive alleles to show the disorder X-LINKED RECESSIVE Examples of ________________________ DISORDERS: HEMOPHILIA ____________________ COLORBLINDNESS ____________________ DUCHENNE MUSCULAR DYSTROPHY ____________________ HEMOPHILIA CAUSE: Mutation in genes for __________________ Blood clotting proteins on X chromosome carried ______ Blood clotting proteins are missing so person with this disorder can’t stop bleeding when bleed to death from minor injured; can ________________ cuts or suffer internal bleeding from bruises or bumps. COLORBLINDNESS CAUSE: Mutation in one of three genes for _______________ carried on X chromosome Color vision Persons with this disorder have trouble distinguishing colors. Red-green _________________ colorblindness is most common Seen in 1 in 10 males 1 in 100 females http://gizmodo.com/gadgets/peripherals/samsung-develops-lcd-for-colorblind-036306.php What’s the pattern: Y-linked traits show up _______ ONLY in _______ males ________ X-linked recessive traits: __________________ ______________________ more common in males than females. ________________ ONLY FEMALES can be ________. carriers AUTOSOMAL RECESSIVE traits: _______________________ FEMALES can be ________ carriers BOTH MALES ______ & _________ CHROMOSOMAL MUTATIONS ____________________________: structure or Change in the ______________ number ____________ of chromosomes Homologous chromosomes fail to separate during MEIOSIS ________________ NONDISJUNCTION = _________________________ One cell gets 2 copies of the chromosome the other cell gets none. Nondisjunction Nondisjunction Since it happens to a sperm or egg, the new baby can end up 3 copies with _____________ of a chromosome TRISOMY = __________________ OR one copy of a only ___________ chromosome = ___________________ MONOSOMY TRISOMY 21 Down syndrome (= ____________) Down syndrome (Trisomy 21) • 1 in 800 births • Similar facial features • Slanted eyes • Protruding tongue Down syndrome (Trisomy 21) • Most common chromosomal abnormality • 50% have heart defects that need surgery to repair • Mild to severe mental retardation • Increases susceptibility to many diseases • Risk of having a child with Down syndrome increases with age of mom Klinefelter syndrome • 1 in 1000 births • Males have extra X chromosomes (Can be XXy, XXXy, or XXXXy) • Average to slight decrease in intelligence • Small testes/can’t have children • Usually not discovered until puberty when don’t mature like peers