NAME ______f12
Chapter 14 –HONORS GENETIC DISORDERS TEST
(2 points each)
MATCHING:
Match the genetic disorder with its description.
______Change in hemoglobin gene causes red blood cells to
change shape causing circulatory problemsA. ACHONDROPLASIA
B. HUNTINGTON’s
______Degenerative brain disorder caused by extra CAG repeats C. COLORBLINDNESS
in the gene code whose symptoms appear around middle age D. TAY-SACHS
and result in nursing home care and eventually deathE. HEMOPHILIA
F. SICKLE CELL DISEASE
______Inability to distinguish between certain colors G. CYSTIC FIBROSIS
(especially red and green)H. PHENYLKETONURIA
I. TURNER SYMDROME
______Mutation in a blood clotting protein so individuals can’t stop J. DOWN SYNDROME
bleeding if injuredK.KLINEFELTER SYNDROME
L. DUCHENNE MUSCULAR
______Mutation in gene that breaks down the amino acid phenylalanine DYSTROPHY
which accumulates in their brain and persons become retarded if
they eat foods containing phenylalanine.
______Mutation in muscle proteins that gradually weakens and
destroys muscle tissue
______Syndrome in which a person has an extra #21 chromosome
causing mental retardation and often heart defects
______Females with only one X chromosome (XO)
______Males with extra X chromosomes (XXy, XXXy, XXXXy)
______Defect in ion channels which transport Cl- ions causing mucous to build up
in lungs and digestive organs
______Enzyme defect that causes lipids to build up in the brain;
Results in blindness, retardation, and death by age 5
______Defect in bone formation resulting in a person with a normal size
head and torso, but short arms and legs
MATCHING:
Match the genetic disorder with its description.
______Change in hemoglobin gene causes red blood cells to
change shape causing circulatory problemsA. TAY-SACHS
B. ACHONDROPLASIA
______Degenerative brain disorder caused by extra CAG repeats C. HUNTINGTON’s
in the gene code whose symptoms appear around middle age D. COLORBLINDNESS
and result in nursing home care and eventually deathE. HEMOPHILIA
F. CYSTIC FIBROSIS
______Inability to distinguish between certain colors G. DOWN SYNDROME
(especially red and green) H.KLINEFELTER SYMDROME
I. TURNER SYNDROME
______Mutation in a blood clotting protein so individuals can’t stop J. SICKLE CELL DISEASE
bleeding if injuredK. PHENYLKETONURIA
L. DUCHENNE MUSCULAR
______Mutation in gene that breaks down the amino acid phenylalanine DYSTROPHY
which accumulates in their brain and persons become retarded if
they eat foods containing phenylalanine.
______Mutation in muscle proteins that gradually weakens and
destroys muscle tissue
______Enzyme defect that causes lipids to build up in the brain;
Results in blindness, retardation, and death by age 5
______Defect in bone formation resulting ina person with normal size
head and torso, but short arms and legs
______Syndrome in which a person has an extra #21 chromosome
causing mental retardation and often heart defects
______Females with only one X chromosome (XO)
______Males with extra X chromosomes (XXy, XXXy, XXXXy)
______Defect in ion channels which transport Cl- ions causing mucous to build up
in lungs and digestive organs
MATCHING:
Match the genetic disorder with its description.
______Change in hemoglobin gene causes red blood cells to
change shape causing circulatory problemsA. PHENYLKETONURIA
B. CYSTIC FIBROSIS
______Degenerative brain disorder caused by extra CAG repeats C. HUNTINGTON’s
in the gene code whose symptoms appear around middle age D. COLORBLINDNESS
which results in nursing home care and eventually deathE. HEMOPHILIA
F. SICKLE CELL DISEASE
______Inability to distinguish between certain colors
(especially red and green)
______Mutation in a blood clotting protein so individuals can’t stop
bleeding if injured
______Mutation in gene that breaks down the amino acid phenylalanine
which accumulates in their brain and persons become retarded if
they eat foods containing phenylalanine.
______Defect in ion channels which transport Cl- ions causing mucous to build up
in lungs and digestive organs
***************
______Mutation in muscle proteins that gradually weakens and
destroys muscle tissueA. TURNER SYNDROME
B. DOWN SYNDROME
______Enzyme defect that causes lipids to build up in the brain;C. TAY-SACHS
Results in blindness, retardation, and death by age 5D.KLINEFELTER SYNDROME
E. ACHONDROPLASIA
______Defect in bone formation resulting in a person with aF. DUCHENNE MUSCULAR
normal size head and torso, but short arms and legs DYSTROPHY
______Syndrome in which a person has an extra #21 chromosome
causing mental retardation and often heart defects
______Females with only one X chromosome (XO)
______Males with extra X chromosomes (XXy, XXXy, XXXXy)
MULTIPLE CHOICE:
Tell how each of the following disorders is inherited:
______Achondroplasia ______Sickle Cell Disease
A. autosomal dominant A. autosomal dominant
B. autosomal recessive B. autosomal recessive
C. autosomal COdominant C. autosomal COdominant
D. X-linked recessive D. X-linked recessive
E. nondisjunction E. nondisjunction
______Hemophilia ______Tay-Sachs disease
A. autosomal dominant A. autosomal dominant
B. autosomal recessive B. autosomal recessive
C. autosomal COdominant C. autosomal COdominant
D. X-linked recessive D. X-linked recessive
E. nondisjunction E. nondisjunction
______Down syndrome ______Colorblindness
A. autosomal dominant A. autosomal dominant
B. autosomal recessive B. autosomal recessive
C. autosomal COdominant C. autosomal COdominant
D. X-linked recessive D. X-linked recessive
E. nondisjunction E. nondisjunction
______Duchenne Muscular Dystrophy ______Phenylketonuria (PKU)
A. autosomal dominant A. autosomal dominant
B. autosomal recessive B. autosomal recessive
C. autosomal COdominant C. autosomal COdominant
D. X-linked recessive D. X-linked recessive
E. nondisjunction E. nondisjunction
______Cystic Fibrosis ______Turner syndrome
A. autosomal dominant A. autosomal dominant
B. autosomal recessive B. autosomal recessive
C. autosomal COdominant C. autosomal COdominant
D. X-linked recessive D. X-linked recessive
E. nondisjunction E. nondisjunction
______Klinefelter syndrome ______Huntington’s disease
A. autosomal dominant A. autosomal dominant
B. autosomal recessive B. autosomal recessive
C. autosomal COdominant C. autosomal COdominant
D. X-linked recessive D. X-linked recessive
E. nondisjunction E. nondisjunction
NAME ______(f12)
Chapter 14 –HONORS GENETIC DISORDERS TEST
(2 points each)
MULTIPLE CHOICE:
Put the letter of the answer that best completes the statement on the blank at the left.
______In humans an XX genotype makes you a ______
A. male
B. female
C. mutant
D. carrier
______cell mutations happen in sperm or eggs and can be passed on to the offspring.
A. body
B. somatic
C. germ
D. allele
______mutations cause death, often before birth.
A. Somatic cell
B. X-linked
C. Germ cell
D. Lethal
______cell mutations happen in body cells so they affect the organism itself,
but are NOT passed on to offspring.
A. Gamete
B. Somatic
C. Germ
D. Allele
______In humans an Xy genotype makes you a ______.
A. male
B. female
C. mutant
D. carrier
______A gene that is carried on an X or Y chromosome is called ______.
A. sex influenced
B. sex linked
C. autosomal
D. lethal
______The failure of homologous chromosomes to separate during meiosis is called ______
A. nondisjunction
B. frameshift
C. crossing over
D. synapsis
______A family record that shows how a trait is inherited
over several generations is called a ______
A. karyotype
B. Punnett square
C. pedigree
D. periodic table
______A person that has one copy of a recessive autosomal allele and does not express the trait but can pass it on to his/her offspring is called a ______.
A. mutant
B. carrier
C. hemophiliac
D. gene marker
______can be carriers for AUTOSOMAL RECESSIVE disorders.
A. Only males
B. Only females
C. Both males and females
______can be carriers for X-LINKED RECESSIVE disorders.
A. Only females
B. Only males
C. Both males and females
______A human cell with 3 copies of a chromosome would have 47 chromosomes instead of 46. This condition is called ______.
A. monosomy
B. disomy
C. tetrads
D. trisomy
______twins have identical DNA.
A. monozygotic
B. dizygotic
C. fraternal
D. trisomic
______This picture of an organism’s chromosomes is called a ______
A. pedigree
B. Punnett square
C. karyotype
______The chromosomes that DO NOT determine sex are called ______
A. sex chromosomes
B. autosomes
C. gene markers
D. pedigree partners
______Which parent determines the sex of the baby?
A. father
B. mother
______The dense region in the nucleus of female cells that forms when one of the X chromosomes is randomly inactivated is called a ______body.
A. autosomal
B. sex-linked
C. nucleolus
D. Barr
______Persons who are heterozygous for ______are resistant to malaria.
A. hemophilia
B. Down syndrome
C. sickle cell
D. cystic fibrosis
______Turner’s syndrome is an example of a ______disorder.
A. trisomy
B. monosomy
C. somatic cell mutation
______X-linked recessive disorders show up more frequently in ______.
A. females
B. males
______Sickle cell disease is found more frequently in ______populations.
A. Jewish
B. Caucasians
C. African American
______Tay-Sachs disease is found more frequently in______populations.
A. male
B. Caucasion
C. African American
D. Jewish or Middle Eastern
______Cystic fibrosis is found more frequently in ______populations.
A. male
B. Caucasion
C. African American
D. Jewish or Middle Eastern
______Which food group must people with phenylketonuria avoid?
A. carbohydrates
B. proteins
C. lipids
______This shows a person with
A. Klinefelter syndrome
B. Down syndrome
C. Turner syndrome
______People who are heterozygous for the ______allele are resistant to malaria.
A. hemophilia
B. cystic fibrosis
C. sickle cell disease
D. Huntington’s disease
***************
Match the symbol letter with the correct description
Which member of this family shows the trait?
A BCDEF
Which represents a male is a carrier for this trait?
A BCDEF
A and E in the diagram above are ______
A. normal females
B. normal males
C. diseased males
D. diseased females
B and D in the diagram above are ______
A. normalmales
B. carrier males
C. diseased females
D. carrier females
BONUS
Think about it: Several genetic disorders you learned about result from the inability to break down some molecule. Which cell part do you think has lost its function?
______
Name the autosomal recessive disorder carried on chromosome #21 mentioned in your book, that is named after a famous athlete who had the disorder.
______
Tell how the disorder shown at the left is inherited
(HINT- look at A) Circle one
Autosomal recessive Autosomal dominant X-linked recessive