Download Chapter 12 Review

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the fluid surrounding the fetus is withdrawn to test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
__________________