Chapter 12 Review

1
Chapter 12 Review

• Human Genetic Disorders

2

• This organized picture of an individuals
  chromosomes is called a __________________

karyotype
The person in this picture is a male
female
Female There are 2 X and no y chromosomes.
3

• The genetic disorder in which the person cant
  make the protein needed to make their blood clot
  is called ______________________

hemophilia
Name an X-linked genetic disorder.
Hemophilia, colorblindness, Duchenne Muscular
dystrophy
4
Amniocentesis

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  of the fluid surrounding the fetus is withdrawn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

A person with trisomy-21 (three 21 chromosomes)
has ____________
Down syndrome
5

• 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 cant be carriers for X linked disorders.
6

• A person who has a copy of the gene for a
  recessive disorder but doesnt show any signs of
  the sickness is called a _________________

carrier
A group of genes carried on the same chromosome
and usually inherited together
Linkage group
7

• The cell that forms when an egg and a sperm
• join together is called a _______________

zygote
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.
8

• 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 thatare NOT
sex chromosomes.
9

• 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.
Huntingtons Achondroplasia (dwarfism) Male
pattern baldness (males)
10

• _____________________ 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)
11

• A trait carried on autosomes but affected by a
  persons sex hormones (like male pattern
  baldness) is said to be _____________________

SEX INFLUENCED
A trait in which there are three or more
choices for a single gene (like A, B, and O blood
type) is a ____________ trait. polygenic
multiple allele
multiple allele
12

• 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
Multiple allele sex linked
polygenic
13

• 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, and reattaches
backwards in the strand.
INVERSION
14

• A body cell is also called a ______________ cell.

SOMATIC
______________ mutations cause deathoften before
birth.
LETHAL
15

• A person with the Xy genotype would be
• male female

male
A _________ cell mutation happens in sperm or
egg cells.
GERM
16

• Twins which dont separate entirely and remain
  attached by some body part are called
  ______________

Conjoined
Which person shows the Genetic trait?
A
B
A
C
17

• This picture shows a ___________________
• Karyotype
• Pedigree
• Punnett square

pedigree
The mutation caused when a piece of a chromosome
is missing is called a ________ Addition
substitution inversion deletion
deletion
18

• A point mutation in which one base in the code is
  replaced with a different base is called a
• Addition deletion substitution
  inversion

Substitution
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
19

• 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
is added to the DNA code is called a Addition
deletion substitution inversion
Addition (also called an insertion)
20

• TRUE or FALSE
• When 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
21

• Doctors check the level of ________________
  in the mothers blood to see if the babys spinal
  cord and brain are growing correctly.

Alpha-feto protein

• X-linked genes _______________
• Only show up in girls
• Show up more frequently in boys
• can be heterozygous in boys
• only pass from mothers to daughters

Show up more frequently in males
22

• 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
23

• Twins that come from one sperm and egg are called
  _____________

Maternal or MONOZYGOTIC
Which person is a carrier for the trait?
A
B
C
C
D
24

• A mutation in which a certain piece of DNA is
  copied over and over is called a ____________
• Deletion substitution inversion
  duplication

duplication
The genes that cause a personsred blood cells
to change into this sickle shape is inherited as
an (choose 2) Autosomal Dominant
X-linked Recessive
Autosomal recessive
25

• 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
26

• 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.
27

• The gene that causes malepattern baldness is
• Sex linked sex influenced Y linked

Sex influenced BB in males bald BB in females
not bald It is also AUTOSOMAL DOMINANT
When homologous chromosomes dont separate during
meiosis it is called _________________
nondisjunction
28
What mutation is it?
deletion
Piece of DNA breaks off and is lost
____________________ Piece of DNA breaks
off, flips backwards, and reattaches
____________________ Piece of DNA breaks off
and reattaches To a non-homologous chromosome
_____________________ Extra piece of DNA is
added into the sequence
_______________________ One nucleotide in a
codon is replacedwith another
_______________________ F
ailure of homologous chromosomesto separate
during meiosis ________________________
inversion
translocation
Insertion (addition)
substitution
Non-disjunction
29
thefatcat ranandran
theatcatranandran the fat cat ran and ran
the atc atr and ndr an

• 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
30

• 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
31
Name 3 disorders that are

• Autosomal recessive X linked recessive
• _______________ _______________
• ________________ _______________
• ________________ _______________

Phenylketonuria (PKU) Sickle cell anemia Cystic
fibrosis
Hemophilia Colorblindness Muscular dystrophy
Name 3 disorders that is caused by
nondisjunction ___________________ ______________
_____ ___________________
Downs syndrome Turners syndrome Kleinfelters
syndrome
32

• A trait that is X linked will _____________
• show up more in females than males
• be carried on an autosome appear more in males
  than females
• be 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.
33

• LOW AFP in the moms blood suggests what?

Chromosomal abnormality like Down or
Turner syndrome
Test that can be done earlier than
amniocentesis in which cells from the tissue
around the baby aresampled and checked for
genetic defects
Chorionic villi sampling (CVS)
34

• 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
35

• Give an example of a MULTIPLE ALLELE trait.

ABO Blood type
Give an example of a POLYGENIC trait.
Hair color foot size skin color nose
length eye color intelligence height
36

• HIGH AFP in the moms blood suggests what?

Spina bifida
Name a disadvantage of doing amnioncentesis or
chorionic villi sampling
Can cause miscarriage
37

• Twins with identical DNA that come from the
• same egg and sperm are called

Monozygotic or Maternal
TRUE or FALSE Sex influenced genes are found on
the X chromosome.
False they are autosomal. They are influenced by
the sex hormones of a person.
38
Name the test
Needle is inserted through abdomen and amniotic
fluid containing baby cells is removed and tested
____________________ Blood test done
on mother to measure level of a protein made by
the baby ___________________ Piece is removed
from tissue surrounding baby and tested for
abnormalities ___________________ Cell is
smashed, chromosomes are matched up, and a
picture is taken ______________________
amniocentesis
Alpha feto protein
Chorionic villi sampling
karyotype
39

• Name a kind of mutation that causes a frame shift.

Deletion or insertion(any change that is not in
multiples of 3)
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.
40

• The cell that forms when an egg and a sperm
• join together is called a _______________

zygote
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.
41

• 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 but are affected by a persons sex
hormones.
The deletion of a single nucleotide base
would result in _________________.
nondisjunction monosomy a translocation
a frame shift

mutation
a frame shift mutation Everything gets moved
over one place in the code
42

• 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 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 dont have a back up X.
43

• 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
44

• 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.
45

• 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
Downs syndrome is an example of
_______________. monosomy trisomy
a sex linked a recessive
gene mutation
TRISOMY three of one chromosome
46
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
present causing 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
47
What disorder is it?
Gradual deterioration of the brainthat appears
during middle age resulting in 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
Huntingtons disease (HD)
Duchenne Muscular dystrophy
Colorblindness
Turner syndrome
48
What disorder is it?
Conjoined twins
Twins that are born joined together
____________________ Males with an extra X
chromosome ______________________(XXY)
karyotype some female featuresinfertility Patt
ern of hair loss in which
_____________________ homozygous persons(male
female) heterozygousmales lose their hair in a
predictable pattern Failure of the bone and skin
to grow correctly and cover the spinal cord
__________________________
Kleinfelter syndrome
Male pattern baldness
Spina bifida
49
Dominant/recessive?Autosomal/X-linked/nondisjunct
ion
Nondisjunction
Turner syndrome ____________________
Cystic fibrosis ____________________ Hemo
philia _____________________
Colorblindness __________________ Phenylketo
nuria ___________________ Duchenne muscular
dystrophy ________________
Autosomal recessive
X-linked recessive
X-linked recessive
Autosomal recessive
X-linked recessive
50
Dominant/recessive?Autosomal/X-linked/nondisjunct
ion
Autosomal recessive
Phenylketonuria ____________________
Down syndrome ____________________ Sickle
cell anemia _____________________
Kleinfelter syndrome ____________________ Hu
ntingtons disease ______________________ Male
pattern baldness _________________
nondisjunction
Autosomal recessive
nondisjunction
Autosomal dominant
Autosomal dominant
51
Name 3 disorders that are

• Autosomal recessive X linked recessive
• _______________ _______________
• ________________ _______________
• ________________ _______________

Phenylketonuria (PKU) Sickle cell anemia Cystic
fibrosis Others in book Tay Sachs
Albinism
Hemophilia Colorblindness Duchenne
Muscular dystrophy Others in book
Achondroplasia (dwarfism) Polydactyly
(extra fingers/toes)
52
Name 3 disorders that is caused by
nondisjunction ___________________ ______________
_____ ___________________
Down syndrome Turner syndrome Kleinfelter
syndrome XXX Xyy

• Name a SEX INFLUENCED TRAIT
• _____________________

Male pattern baldness
53
Name a multiple allele trait __________________
A, B, O blood type

• Name a POLYGENIC TRAIT
• _____________________

Human height Intelligence Eye color Hair color
54
Dominant/recessive?Autosomal/X-linked/nondisjunct
ion
Phenylketonuria ____________________
Down syndrome ____________________ Sickle
cell anemia _____________________
Klinefelter syndrome ____________________ Hu
ntingtons ______________________
_
Autosomal recessive
nondisjunction
Autosomal recessive
nondisjunction
Autosomal dominant
55
Dominant/recessive?Autosomal/X-linked/nondisjunct
ion
Turner syndrome ____________________
Cystic fibrosis ____________________ Hemo
philia _____________________
Colorblindness __________________
Nondisjunction
Autosomal recessive
X-linked recessive
X-linked recessive