NAME ______f12

Chapter 14 -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

NAME ______f12

Chapter 14 -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. 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 in a 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

NAME ______f12

Chapter 14 -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. 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
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

______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

Match the symbol letter with the correct description (Circle ONE best answer)

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. normal males
B. carrier males
C. diseased females
D. carrier females

***************

BONUSWhich genetic disorder can be found in a pedigree showing the royal families of Europe?

A. Huntington’s diseaseB. hemophilia

C. colorblindness

D. Achondroplasia

What trait changes in female cats as a result of the production of Barr bodies?

A. length of whiskers

B. length of tail

C. length of hair

D. spot color