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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 problems A. 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 death E. 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 injured K.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 problems A. 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 death E. 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 injured K. 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

MATCHING:

Match the genetic disorder with its description.

________ Change in hemoglobin gene causes red blood cells to

change shape causing circulatory problems A. 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 death E. 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 tissue A. 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 5 D.KLINEFELTER SYNDROME

E. ACHONDROPLASIA

_______ Defect in bone formation resulting in a person with a F. 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 B C D E F

Which represents a male is a carrier for this trait?

A B C D E F

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

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

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