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Chapter 12 Review Human Genetic Disorders This organized picture of an individual’s chromosomes is called karyotype a __________________ The person in this picture is a male female Female There are 2 X and no y chromosomes. The genetic disorder in which the person can’t make the protein needed to make their blood clot is called hemophilia ______________________ Name an X-linked genetic disorder. Hemophilia, colorblindness, Duchenne Muscular dystrophy Amniocentesis is a test in which a needle is ___________________ inserted through the mother’s abdomen and some of the fluid surrounding the fetus is withdrawn to test for genetic problems. A person with trisomy-21 Down syndrome (three #21 chromosomes) has ____________ Genetic disorder in which a person can NOT breakdown phenylalanine and eating foods containing this amino acid causes them to become retarded. Phenylketonuria (PKU) TRUE or FALSE Males can NOT be carriers for autosomal recessive disorders. False. Males CAN carry AUTOSOMAL disorders, they just can’t be carriers for X linked disorders. A person who has a copy of the gene for a recessive disorder but doesn’t show any signs of the carrier sickness is called a _________________ A group of genes carried on the same chromosome and usually inherited together Linkage group The cell that forms when an egg and a sperm zygote join together is called a _______________ TRUE or FALSE GERM cell mutations can be passed on to Offspring. TRUE : Germ cells are reproductive cells. Changes in the DNA of these cells is passed on to the offspring. Genetic disorder in which the DNA code for hemoglobin is changed. Red blood cells with the damaged hemoglobin protein, change into a sickle shape and clog up the blood vessels. Sickle cell anemia TRUE or FALSE An autosomal trait is found on the X chromosome FALSE Autosomes are the chromosomes that are NOT sex chromosomes. A trait that is controlled by several genes (like skin color or height) is called ______________ Polygenic Give an example of an autosomal dominant genetic disease. Huntington’s ; Achondroplasia (dwarfism) Male pattern baldness (males) Chorionic _____________________ villi sampling is a test in which a sample of the tissue is taken from the tissue surrounding the baby and tested to see if the fetus has any genetic disorders. Give an example of Y linked gene. Hairy ears (pinna) A trait carried on autosomes but affected by a person’s sex hormones (like male pattern baldness) is said to be _____________________ SEX INFLUENCED A trait in which there are three or more choices for a single gene (like A, B, and O blood type) is a multiple allele trait. ____________ polygenic multiple allele TRUE or FALSE Dizygotic or fraternal twins have identical DNA False They come from 2 different eggs and 2 different sperm Eye color is a _____________ trait. Polygenic polygenic Multiple allele sex linked The change in a single base of the DNA code is called a ___________ mutation. point INVERSION An _______________ happens when a piece of DNA breaks off, gets flipped around, and reattaches backwards in the strand. A body cell is also called a ______________ SOMATIC cell. LETHAL ______________ mutations cause death often before birth. A person with the Xy genotype would be male female male GERM cell mutation happens in A _________ sperm or egg cells. Twins which don’t separate entirely and remain attached by some body part are called ______________ Conjoined A C B Which person shows the Genetic trait? A This picture shows pedigree a ___________________ Karyotype Pedigree Punnett square The mutation caused when a piece of deletion a chromosome is missing is called a ________ Addition substitution inversion deletion A point mutation in which one base in the code is replaced with a different base is called a Substitution Addition deletion substitution inversion A trait that is NOT polygenic is Height skin color A,B,O blood type eye color A,B,O blood type is a multiple allele trait NOT polygenic This is used to show possible genotypes of offspring. It is called a _______________ Karyotype Pedigre Punnett square Punnett Square A genetic mutation in which an extra base is added to the DNA code is called a Addition deletion substitution inversion Addition (also called an insertion) TRUE or FALSE When 1 egg and 1 sperm form a zygote that splits into balls of cells, the babies will have identical DNA. TRUE A B O blood type is a ___________ trait. Multiple allele Multiple allele polygenic sex linked Doctor’s check the level of ________________ in the mother’s blood to see if the baby’s spinal cord and brain are growing correctly. Alpha-feto protein X-linked genes _______________ A. Only show up in girls B. Show up more frequently in boys C. can be heterozygous in boys D. only pass from mothers to daughters Show up more frequently in males Sickle cell anemia is more common in ____________________ Males females African Americans Caucasians African Americans Cystic fibrosis is more common in ___________ Males females Caucasians African Americans Caucasians Twins that come from one sperm and egg Maternal or are called _____________ MONOZYGOTIC A C B D Which person is a carrier for the trait? C A mutation in which a certain piece of DNA is copied over and over is called a ____________ Deletion substitution inversion duplication duplication The genes that cause a person’s red blood cells to change into this sickle shape is inherited as an (choose 2) Autosomal recessive Autosomal X-linked Dominant Recessive A gene that is carried on the X chromosome X-linked A trait with 3 or more choices for a gene (like A B and O blood type alleles) Multiple allele trait Twins with different DNA that come from 2 different egg and sperm are called dizygotic or Fraternal TRUE or FALSE Sex linked genes are found on the X or y chromosome. True; sex LINKED means they are on one of the sex chromosomes. The gene that causes male pattern baldness is Sex linked sex influenced Y linked Sex influenced BB’ in males = bald BB’ in females = not bald It is also AUTOSOMAL DOMINANT When homologous chromosomes don’t separate nondisjunction during meiosis it is called _________________ What mutation is it? Piece of DNA breaks off and is lost deletion ____________________ Piece of DNA breaks off, flips backwards, inversion and reattaches ____________________ Piece of DNA breaks off and reattaches translocation To a non-homologous chromosome _____________________ Extra piece of DNA is added into the sequence Insertion (addition) _______________________ One nucleotide in a codon is replaced substitution with another _______________________ Failure of homologous chromosomes Non-disjunction to separate during meiosis ________________________ thefatcat ranandran the fat cat ran and ran theatcatranandran the atc atr and ndr an Addition or deletion of part of the DNA code can cause the remaining codons to move up or down the line in the code resulting in a misreading of the code. This is called a ______________ frameshift mutation. Which parent determines the sex of the baby? father Which type of mutation can be passed along to offspring? Somatic cell mutation Germ cell mutation Germ cell mutation Which of the following is NOT visible in a karyotype ? Sex of baby Missing or extra chromosomes a point mutation Point mutations Name 3 disorders that are: Autosomal recessive _______________(PKU) Phenylketonuria Sickle cell anemia ________________ Cystic fibrosis ________________ X linked recessive _______________ Hemophilia Colorblindness _______________ Muscular dystrophy _______________ Name 3 disorders that is caused by nondisjunction: ___________________ Down’s syndrome ___________________ Turner’s syndrome ___________________ Kleinfelter’s syndrome A trait that is X linked will _____________ show up more in females than males be carried on an autosome appear more in males than females be carried by males Appear more in males than females What is the difference between a germ cell mutation and a somatic cell mutation? Somatic cells are body cells and mutations in these cells are NOT passed on to offspring. Germ cells are reproductive cells. Mutations in these cells CAN be passed on to offspring. LOW AFP in the mom’s blood suggests what? Chromosomal abnormality like Down or Turner syndrome Test that can be done earlier than amniocentesis in which cells from the tissue around the baby are sampled and checked for genetic defects Chorionic villi sampling (CVS) Genes that are closer together on a chromosome less are ______________ likely to be separated by crossing over than genes that are farther apart. more less How is a pedigree different from a karyotype? Pedigree shows how a trait is passed along through the generations in a family; Karyotype shows the chromosomes from just one person Give an example of a MULTIPLE ALLELE trait. ABO Blood type Give an example of a POLYGENIC trait. Hair color skin color eye color height foot size nose length intelligence HIGH AFP in the mom’s blood suggests what? Spina bifida Name a disadvantage of doing amnioncentesis or chorionic villi sampling Can cause miscarriage Twins with identical DNA that come from the same egg and sperm are called Monozygotic or Maternal TRUE or FALSE Sex influenced genes are found on the X chromosome. False; they are autosomal. They are influenced by the sex hormones of a person. Name the test Needle is inserted through abdomen and amniotic fluid containing baby cells is removed and tested amniocentesis ____________________ Blood test done on mother to measure level of a protein made by the baby ___________________ Alpha feto protein Piece is removed from tissue surrounding baby and tested for abnormalitiesChorionic __________________ villi sampling Cell is smashed, chromosomes are matched up, and a picture is taken ______________________ karyotype Name a kind of mutation that causes a frame shift. Deletion or insertion (any change that is not in multiples of 3) TRUE or FALSE Females can be carriers for X linked genes. True; they have 2 X chromosomes. So they can have one normal gene and one mutant gene. The cell that forms when an egg and a sperm zygote join together is called a _______________ TRUE or FALSE Somatic cell mutations can be passed on to offspring. False; they are in body cells. They can make the cell unable to function; cause cancer; or kill the body cell BUT are NOT PASSED ON TO OFFSPRING. How is a sex linked trait different from a sex influenced trait? Sex linked traits are carried on sex chromosomes. Sex influenced traits are carried on autosomes but are affected by a person’s sex hormones. The deletion of a single nucleotide base would a frame shift mutation; result in _________________. Everything gets moved over one place in the code nondisjunction monosomy a translocation a frame shift mutation Genes that are farther apart on a chromosome are more likely to be separated by ______________ crossing over than genes that are farther apart. more less Why do X-linked recessive disorders show up more in males than females? Males only have one X. If they get the gene it will show. Females have a 2nd X that can “hide” the disorder gene. They need 2 copies of the gene to show disorder. Males don’t have a “back up” X. Tell one way genetics in humans in MORE COMPLICATED than Mendel thought Some traits are determined by more than one gene (POLYGENIC) Some traits have more than 2 allele choices (MULTIPLE ALLELE) Some genes are linked to other genes Genes can move during crossing over OR “Jump” like in corn Explain why frame shift mutations at the beginning of a gene are more damaging than those at the end Frame shift at beginning damages more of the code. A man and a woman have the same genotype for a trait, but only one of them shows the trait. This would be an example of A sex influenced gene ________________________ Down’s syndrome is an example of TRISOMY; three of one chromosome _______________. monosomy trisomy a sex linked gene a recessive mutation What disorder is it? Mutation in the blood clotting protein makes Hemophilia person unable to stop bleeding after an injury _______________ Mutation in hemoglobin causes red blood Sickle cell anemia cells to change shape and ____________________ clog up blood vessels Phenylketonuria (PKU) Mutation causes mental retardation if foods containing phenylalanine are eaten _____________________ Three #21 chromosomes are present causing mental retardation Down syndrome _______________________ Mutation in ion channel protein causes thick mucous to clog up lungs and Cystic fibrosis digestive organs _______________________ What disorder is it? Gradual deterioration of the brain that appears during middle age resulting in nursing home care and early death Huntington’s ____________________ disease (HD) Progressive weakening of muscle proteins resulting in inability to walk Duchenne Muscular dystrophy and eventually death _________________________ Inability to distinguish between the colors red and green _____________________ Colorblindness Only one X and no y chromosome resulting in infertility Turner syndrome ____________________ What disorder is it? Conjoined twins Twins that are born joined together ____________________ Kleinfelter syndrome Males with an extra X chromosome ______________________ (XXY) karyotype; some female features; infertility Pattern of hair loss in which _____________________ Male pattern baldness homozygous persons(male& female) & heterozygous males lose their hair in a predictable pattern Failure of the bone and skin to grow Spina bifida correctly and cover the spinal cord __________________________ Dominant/recessive? Autosomal/X-linked/nondisjunction Turner syndrome Nondisjunction ____________________ Cystic fibrosis ____________________ Autosomal recessive Hemophilia _____________________ X-linked recessive Colorblindness X-linked recessive __________________ Autosomal recessive Phenylketonuria ___________________ X-linked recessive Duchenne muscular dystrophy ________________ Dominant/recessive? Autosomal/X-linked/nondisjunction Phenylketonuria Down syndrome Autosomal recessive ____________________ nondisjunction ____________________ Sickle cell anemia Kleinfelter syndrome Autosomal recessive _____________________ nondisjunction ____________________ Autosomal dominant Huntington’s disease ______________________ Autosomal dominant Male pattern baldness _________________ Name 3 disorders that are: Autosomal recessive X linked recessive _______________(PKU) Hemophilia _______________ Phenylketonuria Sickle cell anemia Colorblindness ________________ _______________ Cystic fibrosis Duchenne ________________ _______________ Muscular dystrophy Others in book: Others in book: Tay Sach’s Achondroplasia (dwarfism) Albinism Polydactyly (extra fingers/toes) Name 3 disorders that is caused by nondisjunction: Down syndrome ___________________ Turner syndrome ___________________ Kleinfelter syndrome ___________________ XXX Xyy Name a SEX INFLUENCED TRAIT _____________________ Male pattern baldness Name a multiple allele trait: A, B, O blood type __________________ Name a POLYGENIC TRAIT _____________________ Human height Intelligence Eye color Hair color Dominant/recessive? Autosomal/X-linked/nondisjunction Phenylketonuria Down syndrome Autosomal recessive ____________________ nondisjunction ____________________ Sickle cell anemia Klinefelter syndrome Huntington’s Autosomal recessive _____________________ nondisjunction ____________________ Autosomal dominant _______________________ Dominant/recessive? Autosomal/X-linked/nondisjunction Turner syndrome Nondisjunction ____________________ Cystic fibrosis Autosomal recessive ____________________ Hemophilia X-linked recessive _____________________ Colorblindness X-linked recessive __________________