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Chapter 14 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
A person who has a copy of the gene for a recessive
disorder but doesn’t show any signs of the sickness
carrier
is called a _________________
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.
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)
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
Give an example of Y linked gene.
Hairy ears
(pinna)
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
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
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
This picture shows
pedigree
a ___________________
Karyotype
Pedigree
Punnett square
Show up more frequently in males
X-linked genes _______________
A. Only show up in females
B. Show up more frequently in males
C. can be heterozygous in males
D. only pass from mothers to daughters
TRUE or FALSE
MONOZYGOTIC (or maternal) TWINS have
identical DNA.
TRUE
Name the disease that individual’s who are
heterozygous for the sickle cell allele show
resistance to.
malaria
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
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.
Dark spot in the nucleus made when one of the
X chromosomes in females is inactivated
BARR BODY
When homologous chromosomes don’t separate
nondisjunction
during meiosis it is called _________________
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
Tay-Sach’s
________________
Cystic
fibrosis
________________
X linked recessive
_______________
Hemophilia
Colorblindness
_______________
Muscular
dystrophy
_______________
Name 3 disorders that is caused by nondisjunction:
___________________
Down syndrome
___________________
Turner’s syndrome
___________________
Klinefelter’s syndrome
Name disorders that are:
Autosomal Dominant
________________
Huntington’s
________________
Achondroplasia
Autosomal
Codominant
___________________
Sickle cell disease
Which parent determines the sex of the baby?
father
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.
Twins with identical DNA that come from the
same egg and sperm are called
Monozygotic or Maternal
Chromosomes that DON’T determine sex are
autosomes
called ____________________
Other name for “Dwarfism”
Achondroplasia
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.
TRUE or FALSE
Females can be carriers for X linked genes
TRUE
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.
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 ____________________
Klinefelter syndrome
Males with an extra X chromosome ______________________
(XXY) karyotype; some female features;
infertility
Lipids build up in brain causing
Tay-Sachs
blindness, retardation, & early death _________________________
achondroplasia
Disorder in bone growth so torso __________________________
and head are normal size but arms
and legs are short
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
Klinefelter syndrome
Autosomal
CODOMINANT
_____________________
nondisjunction
____________________
Autosomal dominant
Huntington’s disease ______________________
Autosomal recessive
Tay-Sachs _________________