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Chapter 12 Review
Human Genetic Disorders
This organized picture of an individual’s chromosomes is called a __________________karyotype
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
___________________ is a test in which a needle is inserted through the mother’s abdomen and some of the fluid surrounding the fetus is withdrawn to test for genetic problems.
Amniocentesis
A person with trisomy-21 (three #21 chromosomes) has ____________Down syndrome
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 FALSEMales 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 sickness is called a _________________carrier
A group of genes carried on the samechromosome and usually inherited together
Linkage group
The cell that forms when an egg and a sperm
join together is called a _______________zygote
TRUE or FALSEGERM cell mutations can be passed on toOffspring.
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 FALSEAn autosomal trait is found on the X chromosome
FALSE Autosomes are the chromosomes thatare 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 dominantgenetic disease.
Huntington’s ; Achondroplasia (dwarfism)Male pattern baldness (males)
_____________________ 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.
Chorionic villi sampling
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 choicesfor a single gene (like A, B, and O blood type) is a ____________ trait.
polygenic multiple allele
multiple allele
TRUE or FALSEDizygotic or fraternal twins have identical DNA
False They come from 2 different eggs and 2 different sperm
Eye color is a _____________ trait.
Polygenic Multiple allele sex linked
polygenic
The change in a single base of the DNA code is
called a ___________ mutation.point
An _______________ happens when a piece of DNA breaks off, gets flipped around, andreattaches backwards in the strand.
INVERSION
A body cell is also called a ______________ cell.SOMATIC
______________ mutations cause deathoften before birth.LETHAL
A person with the Xy genotype would be
male female
male
A _________ cell mutation happens in sperm or egg cells.
GERM
Twins which don’t separate entirely and remain attached by some body part are called ______________Conjoined
Which person shows theGenetic trait?
A
A B
C
This picture shows a ___________________
Karyotype Pedigree
Punnett square
pedigree
The mutation caused when a piece ofa chromosome is missing is called a ________
Addition substitution inversion deletion
deletion
A point mutation in which one base in the code is replaced with a different base is called a
Addition deletion substitution inversionSubstitution
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 possiblegenotypes of offspring. It is called a _______________
Karyotype Pedigre Punnett square
Punnett Square
A genetic mutation in which an extra base isadded to the DNA code is called a
Addition deletion substitution inversion
Addition (also called an insertion)
TRUE or FALSEWhen 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 polygenic sex linked
Multiple allele
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 girlsB. Show up more frequently in boysC. can be heterozygous in boysD. 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 African Americans Caucasians
Caucasians
Twins that come from one sperm and egg are called _____________Maternal or
MONOZYGOTIC
Which person is a carrier for the trait?
C
A B
C D
A mutation in which a certain piece of DNA is copied over and over is called a ____________
Deletion substitution inversion duplication
duplicationThe genes that cause a person’sred blood cells to change into thissickle shape is inherited as an(choose 2)
Autosomal Dominant
X-linked Recessive
Autosomal 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 FALSESex 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 malepattern baldness is
Sex linked sex influenced Y linked
Sex influencedBB’ in males = baldBB’ in females = not baldIt is also AUTOSOMAL DOMINANT
When homologous chromosomes don’t separateduring meiosis it is called _________________nondisjunction
What mutation is it?Piece of DNA breaks off and is lost ____________________
Piece of DNA breaks off, flips backwards,and reattaches ____________________
Piece of DNA breaks off and reattachesTo a non-homologous chromosome _____________________
Extra piece of DNA is added into thesequence _______________________
One nucleotide in a codon is replacedwith another _______________________
Failure of homologous chromosomesto separate during meiosis ________________________
deletion
inversion
translocation
Insertion (addition)
substitution
Non-disjunction
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 ______________ mutation.
frameshift
Which parent determines the sex of the baby?
father
thefatcat ranandran theatcatranandranthe fat cat ran and ran the atc atr and ndr an
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 visiblein a karyotype ?
Sex of baby Missing or extra chromosomesa point mutation
Point mutations
Name 3 disorders that are:
Autosomal recessive X linked recessive
_______________ _______________
________________ _______________
________________ _______________
Phenylketonuria (PKU)Sickle cell anemiaCystic fibrosis
HemophiliaColorblindnessMuscular dystrophy
Name 3 disorders that is caused by nondisjunction:_________________________________________________________
Down’s syndromeTurner’s syndromeKleinfelter’s syndrome
A trait that is X linked will _____________ show up more in females than males
be carried on an autosomeappear more in males than femalesbe 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 amniocentesisin which cells from the tissue around the baby aresampled and checked for genetic defects
Chorionic villi sampling (CVS)
Genes that are closer together on a chromosome are ______________ likely to be separated by crossing over than genes that are farther apart.
more less
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 foot sizeskin color nose lengtheye color intelligenceheight
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 FALSESex influenced genes are found on the X chromosome.
False; they are autosomal. They are influenced by the sex hormones of a person.
Name the testNeedle is inserted through abdomen and amniotic fluid containing baby cells is removed and tested ____________________ Blood test done on mother to measure level of aprotein made by the baby ___________________
Piece is removed from tissue surrounding babyand tested for abnormalities ___________________
Cell is smashed, chromosomes are matched up, and a picture is taken ______________________
amniocentesis
Alpha feto protein
Chorionic villi sampling
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 FALSEFemales 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
join together is called a _______________zygote
TRUE or FALSESomatic cell mutations can be passed on tooffspring.
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 butare affected by a person’s sex hormones.
The deletion of a single nucleotide base wouldresult in _________________.
nondisjunction monosomy a translocation a frame shift mutation
a frame shift mutation;Everything gets moved over one place in the code
Genes that are farther apart on a chromosome are ______________ likely to be separated by crossing over than genes that are farther apart.
more less
more
Why do X-linked recessive disorders show upmore 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 _______________.
monosomy trisomy a sex linked a recessive gene mutation
TRISOMY; three of one chromosome
What disorder is it?Mutation in the blood clotting protein makes person unable to stop bleeding after an injury _______________
Mutation in hemoglobin causes red blood cells to change shape and ____________________clog up blood vessels
Mutation causes mental retardation if foods containing phenylalanine are eaten _____________________
Three #21 chromosomes are presentcausing mental retardation _______________________
Mutation in ion channel protein causesthick mucous to clog up lungs and digestive organs _______________________
Hemophilia
Sickle cell anemia
Phenylketonuria (PKU)
Down syndrome
Cystic fibrosis
What disorder is it?Gradual deterioration of the brainthat appears during middle age resultingin nursing home care and early death ____________________
Progressive weakening of muscleproteins resulting in inability to walkand eventually death _________________________
Inability to distinguish betweenthe colors red and green _____________________
Only one X and no y chromosome ____________________resulting in infertility
Huntington’s disease (HD)
Duchenne Muscular dystrophy
Colorblindness
Turner syndrome
What disorder is it?
Twins that are born joined together ____________________
Males with an extra X chromosome ______________________(XXY) karyotype; some female features;infertility
Pattern of hair loss in which _____________________ homozygous persons(male& female) & heterozygousmales lose their hair in a predictable pattern
Failure of the bone and skin to growcorrectly and cover the spinal cord __________________________
Conjoined twins
Kleinfelter syndrome
Male pattern baldness
Spina bifida
Dominant/recessive?Autosomal/X-linked/nondisjunctionTurner syndrome ____________________ Cystic fibrosis ____________________
Hemophilia _____________________
Colorblindness __________________
Phenylketonuria ___________________
Duchenne muscular dystrophy ________________
Nondisjunction
Autosomal recessive
X-linked recessive
X-linked recessive
Autosomal recessive
X-linked recessive
Dominant/recessive?Autosomal/X-linked/nondisjunctionPhenylketonuria ____________________ Down syndrome ____________________
Sickle cell anemia _____________________
Kleinfelter syndrome ____________________
Huntington’s disease ______________________
Male pattern baldness _________________
Autosomal recessive
nondisjunction
Autosomal recessive
nondisjunction
Autosomal dominant
Autosomal dominant
Name 3 disorders that are:
Autosomal recessive X linked recessive
_______________ _______________
________________ _______________
________________ _______________
Phenylketonuria (PKU)Sickle cell anemiaCystic fibrosis
Others in book: Tay Sach’s Albinism
HemophiliaColorblindnessDuchenne Muscular dystrophy
Others in book: Achondroplasia (dwarfism) Polydactyly (extra fingers/toes)
Name a SEX INFLUENCED TRAIT
_____________________Male pattern baldness
Name 3 disorders that is caused by nondisjunction:_________________________________________________________
Down syndromeTurner syndromeKleinfelter syndromeXXXXyy
Name a POLYGENIC TRAIT
_____________________Human heightIntelligenceEye colorHair color
Name a multiple allele trait:__________________A, B, O blood type
Dominant/recessive?Autosomal/X-linked/nondisjunction
Phenylketonuria ____________________ Down syndrome ____________________
Sickle cell anemia _____________________
Klinefelter syndrome ____________________
Huntington’s _______________________
Autosomal recessive
nondisjunction
Autosomal recessive
nondisjunction
Autosomal dominant
Dominant/recessive?Autosomal/X-linked/nondisjunction
Turner syndrome ____________________ Cystic fibrosis ____________________
Hemophilia _____________________
Colorblindness __________________
Nondisjunction
Autosomal recessive
X-linked recessive
X-linked recessive