Single-Gene Inheritance Flashcards

(162 cards)

1
Q

These are rules explaining the common patterns of inheritance

A

Modes of inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

It affects both sexes and appears every generation (ex: huntington disease)

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

It affects both sexes and can skip generations through carriers (ex: cystic fibrosis, albinism)

A

Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

He’s the first thinker to probe the underlying rules of logic that make it possible to predict inheritance of specific traits.

A

Gregor Mendel

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Units of inheritance that pass traits from generation to generation.

A

Elementen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Mendel knew nothing of DNA, chromosomes, or cells, but his “laws” of ______ explain trait transmission in any diploid species.

A

inheritance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

He is a son of a farmer and grandson of a gardener, and he learned early how to tend fruit trees.

A

Gregor Mendel

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

At age 10 he left home to attend a special school for bright students, supporting himself by tutoring.

A

Gregor Mendel

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Mendel became a priest at an atypical _____________ where the priests were teachers and did research in natural science.

A

Augustinian monastery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

He learned how to artificially pollinate crop plants to control their breeding.

A

Mendel

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Mendel wanted to teach _______ but had difficulty passing his exams due to test anxiety.

A

natural history

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

At age 29, he was such an effective substitute _____ that he was sent to earn a college degree.

A

teacher

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

At the __________, courses in the sciences and statistics fueled his interest in plant breeding.

A

University of Vienna

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Mendel bred ________ hybrids and applied statistics.

A

pea plant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

From 1857 to 1863, Mendel crossed and cataloged traits in ________ plants, through several generations.

A

24,034

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Mendel described his work to the _________ in 1865 and published it in the organization’s journal the next year.

A

Brnö Medical Society

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Three botanists who independently rediscovered the laws of inheritance and once they read Mendel’s paper, they credited him.

A

Hugo DeVries, Karl Franz Joseph Erich Correns, and Seysenegg Tschermak

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Mendel came to be regarded as the ____________

A

father of genetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

“Short” and “tall” plants reflect expression of a gene that enables a plant to produce the hormone _______, which elongates the stem.

A

gibberellin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

“Round” and “wrinkled” peas arise from the ______, whose encoded protein connects sugars into branching polysaccharide molecules.

A

R gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Seeds with a _______ cannot attach the sugars. As a result, water exits the cells, and the peas wrinkle.

A

mutant R gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

These are ideal for probing heredity because they are easy to grow, develop quickly, and have many traits that take one of two easily distinguishable forms.

A

Peas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

First generation

A

Parental generation (P1)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Second generation

A

first filial generation (F1)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Third generation
second filial generation (F2)
26
Plants with one trait variant crossed to plants with the alternate, produces _____, which are offspring that inherit a different gene variant from each parent.
hybrids
27
kind of breeding wherein the parents would produce offspring that would carry the same phenotype. This means that the parents are homozygous for every trait
True breeding
28
one trait that masks another
Dominant
29
masked trait
Recessive
30
Mendel conducted ___ hybrid crosses for each of the seven traits.
70
31
type of genetics breeding experiment between **two parent organisms that each have a different homozygous trait**
Monohybrid cross
32
Gametes distribute _______ because these cells physically link generations.
elementen
33
Paired sets of elementen separate as _______ form.
gametes
34
When gametes join at fertilization, the _______ combine anew.
elementen
35
Mendel reasoned that each elementen was packaged in a separate _____
gamete.
36
states that the two alleles for each trait, **segregate or separate during the formation of gametes**
Law of segregation
37
During the formation of new ______, the **alleles will combine at random with other alleles**
zygotes
38
This ensures that a parent, with two copies of each gene, **can pass on either allele**
Law of segregation
39
Elementen and ______ had much in common.
chromosomes
40
Both paired _______ and ______ separate at each generation and are transmitted—one from each parent—to offspring.
elementen and pairs of chromosomes
41
__________ provided a **physical mechanism** for Mendel’s hypotheses.
Chromosomes
42
In 1909, English embryologist ________ renamed Mendel’s elementen as _____ (Greek for “give birth to”).
William Bateson, genes
43
It reflects the **actions of chromosomes and genes during meiosis.**
Law of segregation
44
a long **sequence of DNA**, it can vary in many ways.
Gene
45
individual with **two identical alleles** for a gene.
Homozygous
46
individual with **two different alleles** —what Mendel called “non-true-breeding” or “hybrid.”
Heterozygous
47
It is shown as a capital letter
Dominant allele
48
it is shown as small letter
Recessive allele
49
individual with **both recessive alleles, shown with two small letters.**
Homozygous recessive
50
individual with **two dominant alleles, shown with two capital letters.**
Homozygous dominant
51
**One dominant and one recessive allele**, such as Tt for non-true-breeding tall pea plants, indicates _______
heterozygotes
52
describes the organism’s alleles
Genotype
53
describes the **outward expression of an allele** combination.
Phenotype
54
**most common expression** of a particular allele combination in a population.
Wild type phenotype
55
may be recessive or dominant.
Wild type allele
56
variant of a gene’s expression that arises when the **gene undergoes a change, or mutation.**
Mutant phenotype
57
When a _____ is produced, the two copies of a gene separate with the homologs that carry them.
gamete
58
This **represents how particular genes in gametes join**, assuming they are on different chromosomes.
Punnett square
59
**crossing an individual of unknown genotype** with a homozygous recessive individual.
Test cross
60
Mendel deduced that ________ for height segregate, then combine at random with those from the opposite gamete at fertilization.
elementen
61
A monohybrid cross yields a genotypic ratio of ______
1:2:1
62
A monohybrid cross yields a phenotypic ratio of ____
3:1
63
Inheritance of single genes is also called ________ or ________ inheritance.
Mendelian, or monofactorial
64
Disorders, such as _______ and __________ , are rare compared to infectious diseases, cancer, and multifactorial disorders, affecting 1 in 10,000 or fewer individuals.
sickle cell disease or muscular dystrophy
65
Getting an accurate diagnosis can be difficult because physicians are unfamiliar with the _____
phenotype
66
The ____________ is addressing the difficulty of getting an accurate diagnosis
U.S. National Institutes of Health Diseases Program
67
Sequencing the human genome and using SNPs (points in the genome where people vary) to catalog inherited variation have revealed that the ________ associated with single genes are influenced by other genes as well as by environmental factors.
phenotypes
68
what eye color do most people have
brown
69
______ and ____ eyes are almost exclusively in people of European ancestry
Blue and green
70
The color of the iris is due to ____ pigments
melanin
71
two forms of melanin pigments
eumelanin pheomelanin
72
dark brown/black
Eumelanin
73
red-yellow
pheomelanin
74
cells that produces melanin
melanocytes
75
melanocytes are stored in structures called ________ in the outermost layer of the iris
melanosomes
76
People differ in the amount of _____ and number of _______, but have about the same number of ________ in their eyes.
melanin, melanosomes, melanocytes
77
_______ of eye color—light versus dark brown, clear blue versus greenish or hazel—arise from the distinctive peaks and valleys at the back of the iris
Nuances
78
Thicker regions darken appearance of the _______, rendering brown eyes nearly black in some parts and blue eyes closer to purple.
pigments
79
The bluest eyes have ____ irises with very little pigment.
thin
80
A single gene on chromosome __, ____, confers eye color by controlling melanin synthesis.
15, OCA2
81
If OCA2 gene is missing, _____ results, causing very pale skin and red eyes.
albinism
82
Wild type human eyes are _____ because this is the most common phenotype in the global human population.
brown
83
Near the OCA2 gene on chromosome 15 is a second gene, ______, that controls expression of the OCA2 gene.
HERC2
84
A certain ____ in HERC2 abolishes the control over OCA2, and blue eyes result.
SNP
85
A person must inherit two copies of this ____ to have blue eyes.
SNP
86
____ eye color is the disruption of a “normal” function.
blue
87
It is found in many species, indicating that it is ancient.
HERC2 gene
88
wild type human eye color
brown
89
eye color stemmed from mutations or SNPs that persisted.
blue and green
90
The surface of the back of the iris contributes to the _____ of eye color.
intensity
91
**Extreme variant of the more common Tourette syndrome**, which causes tics and other uncontrollable movements.
Jumping Frenchmen of Maine syndrome
92
**rules that explain the common patterns of single-gene transmission**, derived from mendel's law
Modes of Inheritance
93
Knowing _______ makes it possible to calculate the probability that a particular couple will have a child who inherits a particular condition.
mode of inheritance
94
The way that a trait is passed depends on whether the gene that determines it is on an ______ or on a ____________, and whether the particular allele is _________ or _______
autosome, sex chromosome, recessive or dominant
95
In _______________, a **trait can appear in either sex** because an autosome carries the gene.
autosomal dominant inheritance
96
If no offspring inherit the trait in one generation, its transmission stops because the offspring can pass on only the ______ of the gene.
recessive form
97
Many ________ diseases do not cause symptoms until adulthood.
autosomal dominant
98
When one parent has an autosomal dominant condition and the other does not, each offspring has a ___ percent probability of inheriting the mutant allele and the condition.
50
99
__________ phenotype is either **lethal or very rare** because both parents of the person with the AA genotype would have to have the disorder
Homozygous dominant (AA)
100
Mendel’s ____ law can be used to calculate the probability that an individual will have either of two phenotypes. The probabilities of each possible genotype are added.
first
101
____________ condition is more likely to recur when blood relatives have children together.
Autosomal recessive
102
Marriage between relatives introduces _________, which means “shared blood”—a figurative description, since genes are not passed in blood.
consanguinity
103
this raises risk of inheriting autosomal recessive diseases.
Consanguinity
104
An unrelated man and woman have _____different grandparents, but first cousins have only __
eight , six
105
A _________individual would not have survived childhood, due to brain degeneration.
homozygous recessive
106
It is caused by having defective copies of a gene in chromosome 15. Babies who are born with this disease develop normally until 6 months. They begin to lack an enzyme in the brain. They suffer from mental and physical handicaps and mostly will die by the age of 4.
Tay-Sachs Disease
107
Determining whether an ______ is dominant or recessive is critical in determining risk of inheriting a particular condition (phenotype).
allele
108
________ and ________ arise from the genotype, and reflect the characteristics or abundance of a protein.
Dominance and recessiveness
109
The one normal allele compensates for the _____ one, to which it is dominant.
mutant
110
A recessive trait arises from a ________ because the recessive allele usually causes the loss of normal protein production and function.
“loss of function”
111
Dominantly inherited disorders are due to a ___________, because they result from the action of an abnormal protein that interferes with the function of the normal protein.
“gain of function”
112
Huntington disease is a _________ disorder because individuals who are missing one copy of the gene do not have the illness.
“gain of function”
113
The protein encoded by the mutant HD allele must be _______, not absent, to cause the disease.
abnormal
114
In ______, the dominant mutant allele encodes an abnormally long protein that prevents the normal protein from functioning in certain brain cells
HD
115
_________ disorders tend to be more severe, and produce symptoms earlier than ______ disorders.
Recessive, dominant
116
Disease-causing ______ alleles remain in populations because healthy heterozygotes pass them to future generations.
recessive
117
If a ________ mutation arises that harms health early in life, people who have the allele are either too ill or do not survive long enough to reproduce.
dominant
118
________ disorders whose symptoms do not appear until adulthood, or that do not drastically disrupt health, remain in a population because they do not affect health until after a person has reproduced.
Dominant
119
this reveal whether a single-gene trait is dominant or recessive and whether the gene that controls it is carried on an autosome or a sex chromosome
Modes of inheritance
120
Rare __________ disorders sometimes recur in families when parents are related.
autosomal recessive
121
It is the ability of a protein encoded by one allele to compensate for a missing or abnormal protein encoded by another allele.
dominance
122
this follows the inheritance of two alleles for a single gene.
Law of segregation
123
it states that for two genes on different chromosomes, the inheritance of one does not influence the chance of inheriting the other.
Law of independent assortment
124
The two genes thus ________ because they are packaged into gametes at random.
“independently assort”
125
A Punnett square for three genes has __ boxes;
64
126
A Punnett square for four genes has __ boxes;
256
127
An easier way to predict genotypes and phenotypes in multi-gene crosses is to use the __________ on which Punnett squares are based.
mathematical laws of probability
128
it predicts the likelihood of an event.
probability
129
An application of probability theory called the _______ can predict the chance that parents with known genotypes can produce offspring of a particular genotype.
product rule
130
In a dihybrid cross of heterozygotes for seed color and shape, the phenotypic ratio of ______ revealed that transmission of one gene does not influence that of another.
9:3:3:1
131
_______ events explain independent assortment
meiotic
132
Mendel’s law of _______ considers genes transmitted on different chromosomes.
independent assortment
133
Charts called ________ display family relationships and depict which relatives have specific phenotypes and genotypes.
pedigrees
134
__________ serves the same purpose as one for purebred dogs or cats or thoroughbred horses—it represents relationships
Human pedigree
135
A ______ in genetics differs from a family tree in genealogy, and from a genogram in social work, in that it indicates disorders or traits as well as relationships and ancestry.
pedigree
136
_____ include molecular data, test results, haplotypes (genes or SNPs linked in segments on a chromosome), and even genome-wide association study information.
pedigrees
137
A _____ consists of lines that connect shapes.
pedigree
138
this represent generations
vertical lines
139
lines that connect two shapes at their centers depict partners;
horizontal
140
shapes connected by vertical lines that are joined horizontally
represent siblings.
141
indicate males
squares
142
indicate females
Circles
143
indicate individuals of unspecified sex.
Diamonds
144
designate generations
Roman numerals
145
indicate individuals
Arabic numerals or names
146
indicate individuals who express a trait
Colored or shaded shapes
147
they are known as carriers
half-filled shapes
148
A _________ may sketch a pedigree while interviewing a client, then use a computer program and add test results that indicate genotypes.
genetic counselor
149
The earliest pedigrees were strictly ________, not indicating traits.
genealogical
150
The term pedigree arose in the 15th century, from the French_____, which means “crane’s foot.”
pie de grue
151
The overall diagram often resembled a ______
bird’s foot
152
One of the first pedigrees to trace an inherited illness was an extensive family tree of several _______ families, indicating which members had the clotting disorder hemophilia.
European royal
153
In 1845, a genealogist named ________ constructed a pedigree of a family with colorblindness using musical notation—half notes for unaffected females, quarter notes for colorblind females, and filled-in and squared-off notes to represent the many colorblind males.
Pliny Earle
154
In the early 20th century, eugenicists tried to use _____ to show that traits such as criminality, feeblemindedness, and promiscuity were the consequence of faulty genes.
pedigrees
155
People who have kept meticulous family records are invaluable in helping researchers follow the inheritance of particular genes in groups such as the _______ and _______
Mormons and the Amish
156
In HD, the gene was eventually traced to a _______ sailor who introduced the mutation in the nineteenth century.
Portuguese
157
For some disorders, carriers can be identified by detecting half the ______ amount of a key biochemical.
wild type
158
A pedigree may be________, which means that either autosomal recessive or autosomal dominant inheritance can explain the pattern of filled-in symbols.
inconclusive
159
a type of hair loss.
Alopecia areata
160
According to the pedigree, alopecia areata can be passed in an ________
autosomal dominant mode
161
the pedigree can also depict __________ inheritance if the individuals represented by unfilled symbols, are carriers.
autosomal recessive
162
this tend to arise when families are small and the trait is not severe enough to impair fertility.
Inconclusive pedigrees