Chapter 12 Review

Human Genetic Disorders

This organized picture of an individual’s chromosomes is called a __________________karyotype

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

___________________ is a test in which a needle is inserted through the mother’s abdomen and some of the fluid surrounding the fetus is withdrawn to test for genetic problems.

Amniocentesis

A person with trisomy-21 (three #21 chromosomes) has ____________Down syndrome

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 FALSEMales 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 sickness is called a _________________carrier

A group of genes carried on the samechromosome and usually inherited together

Linkage group

The cell that forms when an egg and a sperm

join together is called a _______________zygote

TRUE or FALSEGERM cell mutations can be passed on toOffspring.

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 FALSEAn autosomal trait is found on the X chromosome

FALSE Autosomes are the chromosomes thatare 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 dominantgenetic disease.

Huntington’s ; Achondroplasia (dwarfism)Male pattern baldness (males)

_____________________ 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.

Chorionic villi sampling

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 choicesfor a single gene (like A, B, and O blood type) is a ____________ trait.

polygenic multiple allele

multiple allele

TRUE or FALSEDizygotic or fraternal twins have identical DNA

False They come from 2 different eggs and 2 different sperm

Eye color is a _____________ trait.

Polygenic Multiple allele sex linked

polygenic

The change in a single base of the DNA code is

called a ___________ mutation.point

An _______________ happens when a piece of DNA breaks off, gets flipped around, andreattaches backwards in the strand.

INVERSION

A body cell is also called a ______________ cell.SOMATIC

______________ mutations cause deathoften before birth.LETHAL

A person with the Xy genotype would be

male female

male

A _________ cell mutation happens in sperm or egg cells.

GERM

Twins which don’t separate entirely and remain attached by some body part are called ______________Conjoined

Which person shows theGenetic trait?

A

A B

C

This picture shows a ___________________

Karyotype Pedigree

Punnett square

pedigree

The mutation caused when a piece ofa chromosome is missing is called a ________

Addition substitution inversion deletion

deletion

A point mutation in which one base in the code is replaced with a different base is called a

Addition deletion substitution inversionSubstitution

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 possiblegenotypes of offspring. It is called a _______________

Karyotype Pedigre Punnett square

Punnett Square

A genetic mutation in which an extra base isadded to the DNA code is called a

Addition deletion substitution inversion

Addition (also called an insertion)

TRUE or FALSEWhen 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 polygenic sex linked

Multiple allele

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 girlsB. Show up more frequently in boysC. can be heterozygous in boysD. 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 African Americans Caucasians

Caucasians

Twins that come from one sperm and egg are called _____________Maternal or

MONOZYGOTIC

Which person is a carrier for the trait?

C

A B

C D

A mutation in which a certain piece of DNA is copied over and over is called a ____________

Deletion substitution inversion duplication

duplicationThe genes that cause a person’sred blood cells to change into thissickle shape is inherited as an(choose 2)

Autosomal Dominant

X-linked Recessive

Autosomal 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 FALSESex 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 malepattern baldness is

Sex linked sex influenced Y linked

Sex influencedBB’ in males = baldBB’ in females = not baldIt is also AUTOSOMAL DOMINANT

When homologous chromosomes don’t separateduring meiosis it is called _________________nondisjunction

What mutation is it?Piece of DNA breaks off and is lost ____________________

Piece of DNA breaks off, flips backwards,and reattaches ____________________

Piece of DNA breaks off and reattachesTo a non-homologous chromosome _____________________

Extra piece of DNA is added into thesequence _______________________

One nucleotide in a codon is replacedwith another _______________________

Failure of homologous chromosomesto separate during meiosis ________________________

deletion

inversion

translocation

Insertion (addition)

substitution

Non-disjunction

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 ______________ mutation.

frameshift

Which parent determines the sex of the baby?

father

thefatcat ranandran theatcatranandranthe fat cat ran and ran the atc atr and ndr an

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 visiblein a karyotype ?

Sex of baby Missing or extra chromosomesa point mutation

Point mutations

Name 3 disorders that are:

Autosomal recessive X linked recessive

_______________ _______________

________________ _______________

________________ _______________

Phenylketonuria (PKU)Sickle cell anemiaCystic fibrosis

HemophiliaColorblindnessMuscular dystrophy

Name 3 disorders that is caused by nondisjunction:_________________________________________________________

Down’s syndromeTurner’s syndromeKleinfelter’s syndrome

A trait that is X linked will _____________ show up more in females than males

be carried on an autosomeappear more in males than femalesbe 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 amniocentesisin which cells from the tissue around the baby aresampled and checked for genetic defects

Chorionic villi sampling (CVS)

Genes that are closer together on a chromosome are ______________ likely to be separated by crossing over than genes that are farther apart.

more less

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 foot sizeskin color nose lengtheye color intelligenceheight

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 FALSESex influenced genes are found on the X chromosome.

False; they are autosomal. They are influenced by the sex hormones of a person.

Name the testNeedle is inserted through abdomen and amniotic fluid containing baby cells is removed and tested ____________________ Blood test done on mother to measure level of aprotein made by the baby ___________________

Piece is removed from tissue surrounding babyand tested for abnormalities ___________________

Cell is smashed, chromosomes are matched up, and a picture is taken ______________________

amniocentesis

Alpha feto protein

Chorionic villi sampling

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 FALSEFemales 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

join together is called a _______________zygote

TRUE or FALSESomatic cell mutations can be passed on tooffspring.

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 butare affected by a person’s sex hormones.

The deletion of a single nucleotide base wouldresult in _________________.

nondisjunction monosomy a translocation a frame shift mutation

a frame shift mutation;Everything gets moved over one place in the code

Genes that are farther apart on a chromosome are ______________ likely to be separated by crossing over than genes that are farther apart.

more less

more

Why do X-linked recessive disorders show upmore 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 _______________.

monosomy trisomy a sex linked a recessive gene mutation

TRISOMY; three of one chromosome

What disorder is it?Mutation in the blood clotting protein makes person unable to stop bleeding after an injury _______________

Mutation in hemoglobin causes red blood cells to change shape and ____________________clog up blood vessels

Mutation causes mental retardation if foods containing phenylalanine are eaten _____________________

Three #21 chromosomes are presentcausing mental retardation _______________________

Mutation in ion channel protein causesthick mucous to clog up lungs and digestive organs _______________________

Hemophilia

Sickle cell anemia

Phenylketonuria (PKU)

Down syndrome

Cystic fibrosis

What disorder is it?Gradual deterioration of the brainthat appears during middle age resultingin nursing home care and early death ____________________

Progressive weakening of muscleproteins resulting in inability to walkand eventually death _________________________

Inability to distinguish betweenthe colors red and green _____________________

Only one X and no y chromosome ____________________resulting in infertility

Huntington’s disease (HD)

Duchenne Muscular dystrophy

Colorblindness

Turner syndrome

What disorder is it?

Twins that are born joined together ____________________

Males with an extra X chromosome ______________________(XXY) karyotype; some female features;infertility

Pattern of hair loss in which _____________________ homozygous persons(male& female) & heterozygousmales lose their hair in a predictable pattern

Failure of the bone and skin to growcorrectly and cover the spinal cord __________________________

Conjoined twins

Kleinfelter syndrome

Male pattern baldness

Spina bifida

Dominant/recessive?Autosomal/X-linked/nondisjunctionTurner syndrome ____________________ Cystic fibrosis ____________________

Hemophilia _____________________

Colorblindness __________________

Phenylketonuria ___________________

Duchenne muscular dystrophy ________________

Nondisjunction

Autosomal recessive

X-linked recessive

X-linked recessive

Autosomal recessive

X-linked recessive

Dominant/recessive?Autosomal/X-linked/nondisjunctionPhenylketonuria ____________________ Down syndrome ____________________

Sickle cell anemia _____________________

Kleinfelter syndrome ____________________

Huntington’s disease ______________________

Male pattern baldness _________________

Autosomal recessive

nondisjunction

Autosomal recessive

nondisjunction

Autosomal dominant

Autosomal dominant

Name 3 disorders that are:

Autosomal recessive X linked recessive

_______________ _______________

________________ _______________

________________ _______________

Phenylketonuria (PKU)Sickle cell anemiaCystic fibrosis

Others in book: Tay Sach’s Albinism

HemophiliaColorblindnessDuchenne Muscular dystrophy

Others in book: Achondroplasia (dwarfism) Polydactyly (extra fingers/toes)

Name a SEX INFLUENCED TRAIT

_____________________Male pattern baldness

Name 3 disorders that is caused by nondisjunction:_________________________________________________________

Down syndromeTurner syndromeKleinfelter syndromeXXXXyy

Name a POLYGENIC TRAIT

_____________________Human heightIntelligenceEye colorHair color

Name a multiple allele trait:__________________A, B, O blood type

Dominant/recessive?Autosomal/X-linked/nondisjunction

Phenylketonuria ____________________ Down syndrome ____________________

Sickle cell anemia _____________________

Klinefelter syndrome ____________________

Huntington’s _______________________

Autosomal recessive

nondisjunction

Autosomal recessive

nondisjunction

Autosomal dominant

Dominant/recessive?Autosomal/X-linked/nondisjunction

Turner syndrome ____________________ Cystic fibrosis ____________________

Hemophilia _____________________

Colorblindness __________________

Nondisjunction

Autosomal recessive

X-linked recessive

X-linked recessive