Unit 2: Mendelian and Genetics

Question 1

branch of biology that deals with heredity and variation of organisms

Answer 1

genetics

Question 2

carry the hereditary information (genes)

Answer 2

chromosomes

Question 3

________ -> DNA -> RNA -> proteins

Answer 3

genes

Question 3

arrangement of nucleotides in DNA

Answer 3

chromosomes

Question 4

contain DNA that codes for the same genes

Answer 4

homologous chromosomes

Question 4

homologous regions code for the same _________

Answer 4

gene

Question 5

both chromosomes have all the same genes in the same locations but different versions of those genes

Answer 5

homologous chromosomes

Question 6

a unit of heredity

Answer 6

gene

Question 6

exact replicas of genes

Answer 6

sister chromatids

Question 7

two genes that occupy the same position on homologous chromosomes and that cover the same trait

Answer 7

alleles

Question 7

a section of DNA sequence encoding a single protein

Answer 7

gene

Question 8

the entire set of genes in an organism

Answer 8

genome

Question 8

a fixed location on a strand of DNA where a gene or one of its alleles is located

Answer 8

locus

Question 9

‘flavors’ of a trait

Answer 9

alleles

Question 10

the physical appearance of an organism

Answer 10

phenotype

Question 10

the genetic makeup of an organism

Answer 10

genotype

Question 11

genotype + environment

Answer 11

phenotype

Question 12

having two different genes for a particular characteristic

Answer 12

heterozygous

Question 12

having identical genes (one from each parent) for a particular characteristic

Answer 12

homozygous

Question 12

trait in which a gene is carried on a sex chromosome

Answer 12

sex-linked

Question 13

the trait appears in the heterozygous condition

Answer 13

dominant

Question 13

a genetic cross between two different genes that differ in two observed traits

Answer 13

dihybrid cross

Question 13

trait controlled by genes on one of 22 pairs of autosomes

Answer 13

autosomal

Question 14

the allele of a gene that masks or suppresses the expression of an alternate allele

Answer 14

dominant

Question 14

does not appear in the heterozygous condition, only in homozygous

Answer 14

recessive

Question 14

an allele that is masked by a dominant allele

Answer 14

recessive

Question 15

first filial generation of a genetic cross

Answer 15

F1

Question 15

a genetic cross involving a single pair of genes (one trait)

Answer 15

monohybrid corss

Question 15

THEORY: traits of two parents “blend” together and inherited by the offspring

Answer 15

Blending Theory of Inheritance

Question 16

a genetic cross where parents differ by a single trait

Answer 16

monohybrid cross

Question 17

How many traits or characteristics did Mendel observe in pea plants?

Answer 17

7

Question 17

parental generation

Answer 17

P

Question 18

second filial generation of a genetic cross

Answer 18

F2

Question 19

plant in Mendel’s experiment

Answer 19

pea plants

Question 19

Enumerate the 7 traits or characteristics of pea plants observed in Mendel’s Experiment

Answer 19

round / wrinkled
yellow / green
purple / white petals
axial / terminal flowers
yellow / green unripe pods
inflated / pinched ripe pods
long / short stems

Question 20

aka Mendel’s theory

Answer 20

Particulate Theory of Inheritance

Question 20

aka the gene idea

Answer 20

Particulate Theory of Inheritance

Question 20

THEORY: inheritance involves the passing of discrete units of inheritance, or genes, from parents to offspring

Answer 20

Particulate Theory of Inheritance

Question 20

Who proved the Chromosome Theory of Inheritance?

Answer 20

Thomas Morgan

Question 20

Who proposed the Chromosome Theory of Inheritance?

Answer 20

Walter Sutton

Question 21

What was the subject used in proving the Chromosome Theory of Inheritance?

Answer 21

fruit fly

Question 21

Enumerate the 3 patterns of inheritance

Answer 21

Principle of Dominance
Principle of Segregation
Principle of Independent Assortment

Question 21

THEORY: genes are present within chromosomes inside the cell

Answer 21

Chromosome Theory of Inheritance

Question 22

POI: one allele masked another, one allele was dominants over the other in the F1 generation

Answer 22

Principle of Dominance

Question 22

THEORY: genes and chromosomes are in pairs in diploid cells

Answer 22

Chromosome Theory of Inheritance

Question 23

POI: When gametes are formed, the pairs of hereditary factors (genes) become separated, so that each sex cell (egg/sperm) receives only one kind of gene

Answer 23

Principle of Segregation

Question 23

POI: genes located on different chromosomes will be inherited independently of each other

Answer 23

Principle of Independent Assortment

Question 24

a useful tool to do genetic crosses

Answer 24

punnett square

Question 24

a lethal genetic disease affecting Caucasians

Answer 24

Cystic Fibrosis

Question 25

used to determine the probability of outcome of offspring

Answer 25

punnett square

Question 25

looks like a windowpane

Answer 25

punnett square

Question 25

Cystic Fibrosis is caused by mutant ___________ gene carried by 1 in 20 people of European descent

Answer 25

recessive

Question 26

1 in _____ children will have
Cystic Fibrosis from 2 parent carriers

Answer 26

4

Question 26

Cystic Fibrosis affects _________ in tissues

Answer 26

transport

Question 26

Enumerate the steps in making a punnett square

Answer 26

1. determine the genotypes of the parent organisms
2. write down your “cross” (mating)
3. draw a Punnett square
4. put in the genotype of one
   parent across the top and that
   of the other parent down the left
   side
5. fill in the boxes by copying
   the row and column head letters
   across or down into the empty
   squares

Question 27

1 in ______ Caucasian couples will be both carriers of
Cystic Fibrosis

Answer 27

400

Question 27

Huntington Disease is also known as _________ because every child of a parent with HD has a 50/50 chance of inheriting the faulty gene

Answer 27

quintessential family disease

Question 27

In Cystic Fibrosis, ___________ is accumulated in lungs, causing infections

Answer 27

mucus

Question 27

a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain

Answer 27

Huntington Disease

Question 28

The allele for
Huntington Disease is _________

Answer 28

dominant

Question 28

mating that involve parents that differ in two genes (two independent traits)

Answer 28

dihybrid cross

Question 28

If F1 generation is allowed to self-pollinate, Mendel observed ________(#) phenotypes

Answer 28

4

Question 28

Test cross with a _____________ individual

Answer 28

homozygous recessive

Question 28

performed when you have an individual with an unknown genotype

Answer 28

test cross

Question 29

type of relationship between alleles, with a heterozygote phenotype intermediate between the two homozygote phenotypes

Answer 29

Incomplete Dominance

Question 29

When F1 generation is self-pollinated, the F2 generation ratio is __________

Answer 29

1:2:1

Question 29

colorblindness is an example of a ___________ trait

Answer 29

sex-linked

Question 30

colorblindness gene is carried only by _____ sex chromosome

Answer 30

x

Question 31

In colorblindness, the Y chromosome is _________ than the X chromosome and contains only limited genes

Answer 31

shorter

Question 31

autosomal traits that are influenced by sex

Answer 31

sex-influenced

Question 31

Sex-influenced traits: if a male has one __________ allele, he will show that trait, but it will take _________ recessive for the female to show that same trait

Answer 31

recessive
2

Question 32

both alleles are simultaneously expressed in the heterozygote

Answer 32

codominant traits

Question 32

genes that are likely to be inherited together because they are physically close to one another on the same chromosome

Answer 32

linked genes

Question 32

an example of codominant traits is __________

Answer 32

blood type

Question 33

a section of DNA sequence encoding a single protein

Answer 33

Gene

Question 34

the entire set of genes in an organism

Answer 34

genome

Question 35

two genes that occupy the same position on homologous chromosomes and that cover the same trait

Answer 35

Alleles

Question 35

Like ‘flavors’ of a trait

Answer 35

alleles

Question 36

a fixed location on a strand of DNA where a gene or one of its alleles is located

Answer 36

locus

Question 36

genetic makeup of an organisms

Answer 36

genotype

Question 37

physical appearance of an organism

Answer 37

Phenotype

Question 38

Genotype + Environment

Answer 38

Phenotype

Question 39

Having identical genes (one from each parent) for a particular characteristic

Answer 39

Homozygous

Question 40

having two different genes for a particular characteristic

Answer 40

Heterozygous

Question 41

a Trait in which a gene is carried on a sex chromosome

Answer 41

Sex-linked trait

Question 42

traits controlled by genes on one of 22 pairs of autosomes

Answer 42

Autosomal trait

Question 43

the allele of a gene that masks or suppresses the expression of an alternate all

Answer 43

dominant

Question 44

the trait appears in the heterozygous condition

Answer 44

DOminant

Question 45

An allele that is masked by a dominant allele

Answer 45

Recessive

Question 46

Does not appear in the heterozygous condition, only in homozygous

Answer 46

Recessive

Question 47

a genetic cross involving a single pair of genes (one trait); parents differ by a single trait

Answer 47

Monohybrid

Question 48

a genetic cross between two different genes that differ in two observed traits

Answer 48

Dihybrid Cross

Question 49

What does this mean? (P)

Answer 49

Parental generation

Question 50

What does this mean? (F1)

Answer 50

First filial generation; offspring from a genetic cross

Question 51

What does this mean ? (F2)

Answer 51

Second filial generation of a genetic cross

Question 52

It is when you follow strictly the Punnett Square

Answer 52

Single gene disease – Mendelian gene/trait

Question 53

most common expression of a particular allele combination in a population. It may be recessive or dominant

ex. Black hair for all Asian (Filipinos)

Answer 53

Wild type phenotype

Question 54

Variant of a (wild type) gene’s expression that arises when the gene undergoes a change, or mutation

Nahaluan ung Wild type Pheno,
ex. Blonde Asian/FIlipino

Answer 54

Mutant Phenotype

Question 55

An illness that typically begins in early adulthood, causing
uncontrollable movements and changes in behavior and thinking (cognition), with death 15 to 20 years later

Answer 55

Huntington disease

Question 56

How many percent of people who have HD are under age 20.

Answer 56

10%

Question 57

Characteristics of Single-Gene Diseases

In families, we can deduce the probability that a particular person has inherited a single-gene disease by considering how he or she is related to an affected relative.

By using what?

Answer 57

Punnett Square

Question 58

T/F: Genes do not like or dislike certain types of people; rather, mutations stay in certain populations because we tend to have children with people similar to ourselves.

Answer 58

True

Question 59

2 example of single-gene diseases

Answer 59

Sickle cell disease
Muscular dystrophy

Question 60

Many single- gene diseases affect fewer than ___ in 10,000 individuals.

Answer 60

1

Question 61

This consist of sick children and their parents can reveal whether the child inherited two disease-causing mutations from carrier parents, or whether a dominant mutation arose anew, termed “de novo”

Answer 61

Tests of trio

Question 62

What do you call ung wala sa genetics nila pero nagkaroon sya like sya ung nauna?

Answer 62

de novo

Question 63

Traits of two parents “blend” together and inherited by the offspring

Answer 63

Blending Theory of Inheritance

Question 64

Particulate Theory of Inheritanceis aka the _____________

Answer 64

Gene Idea

Question 65

Chromosome Theory of Inheritance is Proposed by ________ and
proved by ___________ using _________.

Answer 65

Proposed by Walter Sutton
Proved by Thomas Morgan
using fruit fly

Question 66

Chromosome Theory of Inheritance

Genes and chromosomes are in
pairs in (diploid/haploid) cells

Answer 66

Diploid cells

Question 67

What pattern of Inheritance?

One allele masks another, one allele was
dominant over the other in the F1
generation.

Answer 67

Principle of Dominance

Question 68

What type of Patterns of Inheritance?

When gametes are formed, the pairs of
hereditary factors (genes) become separated,
so that each sex cell (egg/sperm) receives only
one kind of gene.

Answer 68

Principle of Segregation

Question 69

What type of Patterns of Inheritance?

Genes located on different chromosomes will
be inherited independently of each other.

Answer 69

Principle of
independent assortment

Question 70

Mendel noted that short plants crossed to other short plants were
“true-breeding,”

What does it mean?

Answer 70

always producing the same phenotype, in this case
short plants.

Question 71

Huntington’s Disease

Some dominantly inherited diseases are said to be due to a (“lose/gain-of-function,”) because they result from the action of an
abnormal protein that interferes with the function of the normal protein.

extra protein they produce interfering in their nerves

Huntington disease results from a (lose/gain-of-function) in which the dominant mutant allele encodes an abnormally long protein that prevents the normal protein from functioning in certain brain cells.

Answer 71

“gain-of-function”

Question 72

Homozygous/Hetereozygous

They can supply half the recessive allele. They will have mid-way amount of enzymes

Answer 72

Heterozygous

Question 73

An individual with two different recessive alleles for the same gene is termed what?

Some people who have inherited diseases

Answer 73

compound heterozygote.

Question 74

Child has a recessive allele from each parent with the variant located at a different position within the same gene

Answer 74

Compound Geterozygous (CH) Variants

Question 75

How is nucleotide inheritance determines?

In terms of Laboratory-based?

Answer 75

10x Genomics or fosmid pool-based startegy

Question 76

How is nucleotide inheritance determines?

In terms of Computer-based?

Answer 76

SHAPEIT2,Beagle, Eagle2,HapCUT2

Question 77

Why study CH variants?

CH variants are understudied in ___________ disease

Answer 77

Pediatric disease

Question 78

Why study CH variants?

May contribute to ________onset

Answer 78

Early disease onset

Question 79

was the first genetic disorder for which mass post-natal genetic screening was available, beginning in the early 1960s, atypical cases were detected almost immediately.

a. Phenylketonuria
b. Tay–Sachs disease
c. Sickle cell syndromes

Answer 79

Phenylketonuria

Question 80

Molecular analysis of the genome was not yet possible, but protein sequencing revealed
cases caused by compound heterozygosity

a. Phenylketonuria
b. Tay–Sachs disease
c. Sickle cell syndromes

Answer 80

a. Phenylketonuria

Question 81

disease may present in juvenile or
adult onset forms, often as the result of compound heterozygosity between two alleles, one that causes the classic infantile disease in homozygotes and another that allows some residual HEXA enzyme activity.

a. Phenylketonuria
b. Tay–Sachs disease
c. Sickle cell syndromes

Answer 81

Tay–Sachs disease

Question 82

A variety of sickle cell disorders result from inheritance of the sickle cell gene in
a compound heterozygous manner with other mutant beta globin genes

a. Phenylketonuria
b. Tay–Sachs disease
c. Sickle cell syndromes

Answer 82

Sickle cell syndromes

Question 83

. These disorders include sickle
cell-beta thalassemia. In the case of sickle cell anemia, an individual with one allele for hemoglobin S and one allele for hemoglobin C would still develop the disease, despite being heterozygous for both genes.

a. Phenylketonuria
b. Tay–Sachs disease
c. Sickle cell syndromes

Answer 83

c. Sickle cell syndromes

Question 84

A recessive trait is said to arise from a “loss/gain-of-function” because the recessive allele usually prevents the production or activity of the normal
protein

Answer 84

“loss-of-function”

Question 85

On the RECESSIVENESS principle

The one normal allele, therefore, compensates for the mutant one, to which it is
dominant/recessive.

Answer 85

dominant

Question 86

On the RECESSIVENESS principle

T/F: The basis of an inborn error of metabolism is easy to picture. These
diseases are typically recessive because the half normal amount of the
enzyme that a carrier produces is usually sufficient to maintain health. The
one normal allele, therefore, compensates for the mutant one, to which it is
dominant.

Answer 86

TRUE

Question 87

On the RECESSIVENESS principle

Recessive diseases tend to be more severe, and produce symptoms earlier,
than dominant diseases. Disease-causing recessive alleles remain in populations because healthy heterozygotes pass them to future generations.

Answer 87

True

Question 88

On the RECESSIVENESS principle

Most autosomal recessive conditions appear unexpectedly in families, because they
are transmitted silently, through (homozygotes/heterozygotes) (carriers)

Answer 88

heterozygotes

Question 89

On the RECESSIVENESS principle

Marriage between relatives introduces ________, which means “shared blood”—a figurative description, because genes are not passed in blood.

Answer 89

consanguinity

Question 90

On the RECESSIVENESS principle

Alleles inherited from shared ancestors are said to be “________________________”

Answer 90

identical by descent.

Question 91

Comparison of Autosomal Dominant and Autosomal Recessive Inheritance

Males and females affected, with equal frequency.

a. Autosomal Dominant
b. Autosomal Recessive
c. Both

Answer 91

Both

Question 92

Comparison of Autosomal Dominant and Autosomal Recessive Inheritance

Successive generations affected until no one inherits the mutation

a. Autosomal Dominant
b. Autosomal Recessive
c. Both

Answer 92

A.

Question 93

Comparison of Autosomal Dominant and Autosomal Recessive Inheritance

Affected individual has an affected parent, unless he or she has a de novo mutation
a. Autosomal Dominant
b. Autosomal Recessive
c. Both

Answer 93

A.

Question 94

Comparison of Autosomal Dominant and Autosomal Recessive Inheritance

Can skip generations

a. Autosomal Dominant
b. Autosomal Recessive
c. Both

Answer 94

B.

Question 95

Comparison of Autosomal Dominant and Autosomal Recessive Inheritance

Affected individual has parents who are affected or are carriers (heterozygotes)

a. Autosomal Dominant
b. Autosomal Recessive
c. Both

Answer 95

B.

Question 96

Mendel’s 1st law

reflects d actions of chromosomes nd d
genes they carry during meiosis.

(An individual with two identical alleles for
a gene is homozygous for that gene. An individual with two different alleles is heterozygous—what Mendel called “non-true-breeding” or “hybrid.”)

Answer 96

Law of Segregation

Question 97

Mendel’s 1st Law

Gametes combine at random. A t-bearing oocyte is neither more nor less attractive to a sperm than is a T-bearing oocyte. These two factors—equal allele distribution into gametes and random combinations of gametes— underlie Mendel’s Law of _______

Answer 97

Segregation

Question 98

Mendel’s 2nd Law is what?

Answer 98

Law of independent assortment

Question 99

Mendel’s 2nd Law

states that for two genes on different
chromosomes, the inheritance of one gene does not influence the chance of inheriting
the other gene

The two genes are said to “independently assort” because they are packaged into gametes at random.

Answer 99

Law of Independent assortment

Two genes that are far apart on the same chromosome (see discussion on linkage) also appear to independently assort, because so many crossovers take place between
them that it is as if they are part of separate chromosomes

Question 100

What is Principle 1?

a. Test cross/ Pedigree analysis
b. Punett square - Single test cross/monohybdrid
c. Dihybrid Cross

Answer 100

a

Question 101

Law 1
a. Test cross/ Pedigree analysis
b. Punett square - Single test cross/monohybdrid
c. Dihybrid Cross

Answer 101

B.

Question 102

Law 2
a. Test cross/ Pedigree analysis
b. Punett square - Single test cross/monohybdrid
c. Dihybrid Cross

Answer 102

C

Question 103

■ A useful tool to do genetic crosses
■ Looks like a windowpane
■ Used to determine the probability of outcome of offspring

Answer 103

Punnett Square

Question 104

a lethal genetic disease affecting
Caucasians.

1 in 400 Caucasian couples will be both
carriers of CF, 1 in 4 children

Caused by mutant recessive gene carried by 1 in
20 people of European descent.

affects transport in tissues – mucus is accumulated in lungs, causing infections.

Answer 104

Cystic Fibrosis(CF)

Question 105

a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain

allele for Huntington’s disease is dominant

known as the quintessential family disease because
every child of a parent with HD has a 50/50 chance of
inheriting the faulty gene

Answer 105

Huntington Disease (HD)

Question 106

Mating that involve parents that differ in two
genes (two independent traits)

For example, flower color:
P = purple (dominant)
p = white (recessive)
and stem length:
T = tall t = short

Answer 106

Case: Huntington Disease (HD) Dihybrid Cross

Question 107

When you have an individual with an unknown
genotype, you do a ______.

Cross with a homozygous recessive individual.

For example, a plant with purple flowers can
either be PP or Pp… therefore, you cross the
plant with a pp (white flowers, homozygous
recessive)

Answer 107

Test cross