Chapter 4: Extensions of Mendelian Inheritance Flashcards

1
Q

Incomplete dominance is an inheritance pattern in which the __ has an intermediate __

A

heterozygote; phenotype

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2
Q

Whether we consider an allele to be dominant of incompletely dominant may depend on how closely we examine the __

A

phenotype

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3
Q

Define overdominance

A

inheritance pattern in which the heterozygote has greater reproductive successes

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4
Q

T/F: Alleles cannot be codominant

A

False - AB blood type

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5
Q

Lethal alleles most commonly occur in __ genes

A

essential

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6
Q

Define pleiotropy

A

genes that exert multiple phenotypic effects

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7
Q

What two characteristics does Simple Mendelian inheritance involve?

A

a single gene with two different alleles
alleles display a simple dominant/recessive relationship

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8
Q

What two laws do Mendelian Inheritance obey?

A

Law of Segregation
Law of Independent Assortment

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9
Q

Define incomplete dominance

A

phenotype of a heterozygote is intermediate between that of the homozygotes

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10
Q

What is an example of incomplete dominance?

A

Flower color in four-o’ clock plants; red, pink, white

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11
Q

T/F: The 3:1 phenotypic ratio is observed in Incomplete dominance

A

False - becomes 1:2:1

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12
Q

Incomplete dominance is easier seen on a __ or __ level

A

cellular; microscopic

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13
Q

Define codominance

A

phenotype of the heterozygote is a mixture of the phenotypes of the homozygotes - both alleles are expressed

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14
Q

What is an example of codominance?

A

AB Blood Type - both A and B antigens are expressed

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15
Q

List the genotype, surface antigen, and serum antibodies for blood type O

A

Genotype: ii
Surface antigen: neither A or B
Serum antibodies: against A and B

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16
Q

List the genotype, surface antigen, and serum antibodies for blood type A

A

Genotype: I(A)I(A) or I(A)i
Surface antigen: A
Serum antibodies: against B

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17
Q

List the genotype, surface antigen, and serum antibodies for blood type B

A

Genotype: I(B)I(B) or I(B)i
Surface antigen: B
Serum antibodies: against A

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18
Q

List the genotype, surface antigen, and serum antibodies for blood type AB

A

Genotype: I(A)I(B)
Surface antigen: A or B
Serum antibodies: none

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19
Q

A and B are __ to O

A

dominant

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20
Q

Incompatible blood samples result in ?

A

agglutination

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21
Q

What is the code for Rh antigens?

A

D - directs synthesis of the Rh antigen
d - Rh antigen is absent

22
Q

A and B antigens are __ groups that are bound to __ and protrude from the __ membrane

A

sugar; lipids; RBC

23
Q

T/F: O cannot add any terminal sugar, and only possesses the H substance

A

True - why there’s no antigens

24
Q

The B __ on the RBC reacts with the __ B body

A

antigen; anti

25
People with the Bombay phenotype are homozygous for a rare recessive mutation that prevents them from?
synthesizing the complete H substance resulting in no expression of A or B
26
Discuss the dominance hierarchy for coat color in rabits: full coat color, albino, chinchilla, and himalayan
C - full coat c(ch) - chinchilla; partial defect in pigmentation c(h) - himalayan; pigmentation only in certain areas c - albino; no pigmentation
27
Define a lethal allele
one that has the potential to cause the death of an organism
28
Lethal alleles are usually inherited in a __ manner
recessive
29
How do lethal alleles typically result?
mutations in essential genes
30
If the heterozygous state of a lethal allele is tolerated, then the lethal allele is __
recessive
31
If the heterozygous state of a lethal allele leads to death, then the allele is __
dominant
32
Who first observed a lethal allele pattern in mice?
Lucien Cuenot
33
Who confirmed Cuenot's observation of lethal alleles?
Castle and Little
34
T/F: Lethal alleles result in a Mendelian Inheritance Pattern
False - 2:1 ratio, homo recessive leads to death
35
Lethal alleles can also be __ and __
conditional - temperature semilethal
36
Huntington disease is caused by a __ __ allele
dominant lethal
37
Discuss the phenotype based on the genotype for Huntington's Homozygous dominant
die in utero
38
Discuss the phenotype based on the genotype for Huntington's Heterozygous
develop normally; get disease later in live
39
Discuss the phenotype based on the genotype for Huntington's Homozygous recessive
phenotypically normal
40
Define pleiotropy
phenomenon in which a single gene affects a number of seemingly unrelated characters
41
What are three reasons pleiotropy occurs?
gene product can affect cell function in more than one way gene may be expressed in different cell types gene may be expressed at different stages of development
42
What is an example of pleiotropy?
sickle cell anemia
43
Sickle cell anemia is a __ __ disorder
autosomal recessive
44
What are the two alleles affected in Sickle Cell Anemia?
Hb(A) Hb(S)
45
Sickle cell anemia results from a defect in the?
mutation in the gene for the beta chain of hemoglobin
46
What are the two major productions of sickle cell anemia?
sickled red blood cells are destroyed - causing anemia odd-shaped cells clump - blocks in capillary circulation
47
Define overdominance
phenomenon in which a heterozygote is more vigorous than both of the corresponding homozygotes
48
What are three possible explanations for overdominance at the molecular/ cellular level?
Disease resistance homodimer formation variation in functional activity
49
What is an example of overdominance?
Sickle cell anemia + malaria
50
Discuss the overdominance pattern of sickle cell
Hb(A)Hb(A) - normal - dies to malaria Hb(A)Hb(S) - sickle cell trait - protected from both Hb(S)Hb(S) - sickle cell anemia - death from sickle cell anemia