Mendelian Inheritance Flashcards

1
Q

_____ _____ refers to the rather strict rules for inheritance of monogenic traits as first recognized by Gregor Mendel in the 19th century.

A

Mendelian inheritance

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

A _____ or single gene trait is one in which the expression is determined by the input of the two alleles of a single gene.

A

monogenic

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

Traits or structures that involve the input of more than one gene known as _____ traits.

A

polygenic

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

In _____ expression, the two gene alleles are expressed equally.

A

codominant

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

In _____ inheritance, the phenotype accurately expresses the genotype. Red flowers must have 2 red gene alleles (homogenous), pink flowers must have one red gene allele and one white gene allele (heterogenous), and white flowers must have two white gene alleles.

A

codominant

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

Specific inheritance patterns of a monogenic trait can be assessed without knowing a person’s genotype based on _____ _____.

A

family history

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

_____ is the term used to describe how a trait is inherited or passed from one human generation to the next.

A

Transmission

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

A _____ (sometimes termed a kinship) is the extended family relationships over several generations.

A

kindred

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

A _____ is a pictorial or graphic illustration of family members’ places within a kindred and their history for a specific trait or health problem over several generations.

A

pedigree

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

_____-_____ single gene traits have the controlling gene alleles located on an autosomal chromosome.

A

Autosomal-dominant

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

Autosomal-dominant traits are found in approximate _____ distribution between male and female family members.

A

equal

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

True or false:

An autosomal-dominant trait has a carrier status.

A

False

the person with even one dominant allele expresses the trait

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

The autosomal-dominant trait appears in _____ generation with clear transmission from _____ to child.

A
  1. every

2. parent

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

The risk for an affected person with an autosomal-dominant trait who is heterozygous for the dominant allele to pass the trait to his or her child is _____%.

A

50

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

The risk for an affected person with an autosomal-dominant trait who is homozygous for the dominant allele to pass the trait to his or her child is _____%.

A

100

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

Unaffected people do _____ have the autosomal-dominant allele and have essentially _____ (#) risk for transmitting the trait to their children.

A
  1. not

2. zero

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

A person can be homozygous for the dominant alleles of a normal trait, but not for health disorders because with these disorders, the homozygous autosomal-dominant genotype appears _____, with loss at the embryonic or fetal pregnancy stages or within the first _____ (#) months after birth. This distinction slightly changes the predictability of the disorder.

A
  1. lethal

2. 12

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

Two factors that affect the expression of some autosomal-dominant single gene traits are _____ and _____.

A
  1. penetrance

2. expressivity

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

_____ is how often a gene is expressed within a population when it is present.

A

Penetrance

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

The higher degree of _____ of an AD trait, the higher the risk for a person to develop the disease.

A

penetrance

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

_____ is a personal issue (rather than a population issue) in which the degree of gene expression varies by the person who has the dominant gene for a health problem.

A

Expressivity

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

The gene is _____ expressed, but some people have more severe problems than do other people.

A

always

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

A person with low expression of a gene trait can transmit the gene to his or her child who then may have _____ expression of the disorder. The reverse is also true.

24
Q

_____-_____ (AR) traits have the controlling gene alleles on an autosomal chromosome are are expressed _____ when both alleles are present.

A
  1. Autosomal-recessive

2. only

25
An AR trait is found in approximate _____ distribution between male and female family members.
equal
26
An AR trait often appears first in _____ rather than in the _____ of affected children.
1. siblings | 2. parents
27
An AR trait my not appear in _____ generations of any one branch of a family.
all
28
The risk for children of two affected parents with an AR trait to also be affected is close to _____%.
100
29
About _____% of the members of a family with an AR trait will express the trait or disorder.
25
30
True or False: AR traits do have a carrier status in which those individuals who have only one affected allele may not express any level of the trait.
True
31
Unaffected carriers of AR traits _____ transmit the trait to their children if their partner is either a carrier or is affected.
can
32
An AR allele may be present in a family for many generations without overt _____.
expression
33
The phenotype and _____ are the same for expressed AR traits and disorders.
genotype
34
A person who has one mutated allele for a recessive genetic disorder is a _____.
carrier
35
An AR trait carrier is usually not affected and can pass the trait to his or her children. For some AR disorders, a carrier may have very _____ manifestations.
mild
36
A person who has only one sickle cell gene allele and one normal gene allele for beta glob in usually has about _____% normal hemoglobin and rarely expresses sickle cell health problems.
50
37
The unique genes on the Y chromosome are all ______ in origin and are expressed only in _____.
1. paternal | 2. males
38
_____ of the unique Y chromosome genes are important for male anatomic and sexual development and fertility.
Most
39
Females have _____ the number of X chromosomes than males.
twice
40
Because X-linked alleles in the male have no corresponding allele in the Y chromosome, any X-linked allele in a male is expressed as if it were a _____ allele, a condition known as _____.
1. dominant | 2. hemizygosity
41
X-linked recessive genes have _____ expression in males and _____ expression in females.
1. dominant | 2. recessive
42
X-linked recessive traits are also known as _____-_____ recessive traits.
sex-linked
43
The incidence of a _____-_____ trait is much higher among males in a family than among females (and my be exclusive to males).
sex-linked
44
A sex-linked recessive trait _____ be transmitted from father to son.
cannot
45
Sex-linked recessive trait transmission occurs from an affected father to _____ daughters ( who will be obligate carriers) and from a carrier mother to _____ sons and daughters.
1. all | 2. both
46
Female carriers of a sex-linked recessive trait have a _____% risk of transmitting the gene to their children with each pregnancy.
50
47
If no sons are born to carrier mothers, the sex-linked recessive trait may not be expressed _____ for many generations.
overtly
48
If no _____ are born to affected fathers with a sex-linked recessive trait who have children with non carrier mothers, the trait is not transmitted further.
daughters
49
Depending on the sex-linked recessive trait disorder, females who are _____ may not survive pregnancy or will have more severe disease.
homozygous
50
X-linked dominant disorders are _____.
rare
51
Females do express the X-linked dominant disorder in the heterozygous state and have a _____% chance of transmitting the trait with each pregnancy to children of either gender.
50
52
Males who are homozygous for the X-linked dominant allele are _____ profoundly affected than heterozygous females.
more
53
A father affected by an X-linked dominant disorder transmits the disorder to _____ of his daughters (who then express the disorder) and to _____ of his sons.
1. all | 2. none
54
A special genetic feature is present in the somatic cells of females related o the issue of unequal gene alleles for the approximate _____ (#) genes on the X chromosome.
1500
55
Within the first week of embryonic life in females, these cells all randomly inactivate one _____ chromosome in every cell, to prevent XX females from having an excessive "dose" of the X chromosome genes coding for somatic cell function.
X
56
As early embryonic cells commit to become a specific type of tissue or organ, the early organ contains only a few cells, and usually this small number of cells is not _____ in maternal-to-paternal percentage for X inactivation.
equal