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COB Genetics > Lec 7. Extensions to Mendels Rules 2 > Flashcards

Lec 7. Extensions to Mendels Rules 2 Flashcards

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Biology 101 flashcards
1
Q

What is an example of Non-Mendelian Inheritance?

A

Cancer

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2
Q

What are BRCA genes?

A

Tumor suppressors that are important for DNA repair.

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3
Q

How are BRCA mutations inherited?

A

Dominant fashion but not 100% penetrant.

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4
Q

True or False? If you inherit the BRCA gene from your mom and youre a female, youre at greater risk than if your inherit the BRCA gene from your father and are female.

A

True.

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5
Q

Define a lethal allele

A

Causes death at an early stage of development. Some genotypes may not appear among the progeny

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6
Q

What affects the Mendelian genotypic and phenotypic ratios in progeny?

A

lethal allele

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7
Q

Define Multiple alleles

A

For a given locus, more than 2 alleles are present within a group of individuals

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8
Q

What is an example for multiple alleles?

A

ABO blood group

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9
Q

What is the genotype for blood type A?

A

(IA IO)=AO. (IA IA)=AA

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10
Q

What is the genotype for blood type B?

A

(IB IO)=BO. (IB IB)= BB

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11
Q

What is the genotype for blood type AB?

A

(IA IB)=AB

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12
Q

What is the genotype for blood type O?

A

(IO IO)=OO

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13
Q

When does gene interaction take place?

A

When genes at multiple Loci determine a single phenotype

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14
Q

Define Gene interaction

A

Effects of genes at one locus depend on the presence of genes at other loci

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15
Q

What are the two outcomes with gene interaction

A

Can produce novel phenotypes, or epistasis.

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16
Q

What is epistasis?

A

One gene masks the effect of another gene

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17
Q

What is an example for gene interaction?

A

color peppers

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18
Q

What does Dystrophen do?

A

Connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix

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19
Q

What happens when theres a Dystrophen mutation?

A

Muscle dystrophy. Becker’s or Duchennes.

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20
Q

What is recessive epistasis?

A

When the recessive allele of one gene masks the effects of either allele of the 2nd gene

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21
Q

What is dominant epistasis?

A

When the dominant allele of one gene masks the expression of all alleles of another gene

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22
Q

What is duplicate recessive epistasis?

A

2 alleles are involved in producing a characteristic and if either gene has 2 recessive alleles, the phenotype is blocked

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23
Q

What is a good example for Recessive epistasis?

A

ABO blood types.

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24
Q

How does the bombay phenotype display epistasis?

A

Its a mutation that prevents completion of the antigenic pathway. These ppl dont make ABO and cant get transfusions from A,B or O.

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25
Q

What is another example of Epistasis?

A

Coat color and pattern in dogs

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26
Q

What is an example for codominance?

A

BloodAB :IA IB

27
Q

What is an example for multiple alleles?

A

ABO blood group alleles

28
Q

What is Pleiotropy?

A

One gene is able to affect multiple phenotypic characters

29
Q

What is an example of pleiotropy?

A

Sickle-cell disease

30
Q

What is complementation?

A

Occurs when 2 strains of an organism with different homozygous recessive mutations that produce the same mutant phenotype , produce offspring with the wild-type phenotype when mated or crossed.

31
Q

How can we determine if mutations are at the same locus or in different complimentary genes?

A

Cross pure breeding strains.

32
Q

When crossing pure breeding strains, what results when we determine the mutations are at the same locus?

A

the mutant phenotype

33
Q

When crossing pure breeding strains, what results when we determine the mutations are at different loci?

A

Wild type phenotype

34
Q

Why is sickle cell a good example of pleiotropy?

A

A single gene mutation results in liver failure, blindness and heart problems

35
Q

What are the three types of pleiotropy?

A

Molecular gene, developmental, and selectional

36
Q

Define molecular gene pleiotropy

A

Asses how many traits are affected by a gene at the molecular level

37
Q

Define developmental pleiotropy

A

Relates to relationships between mutations and different developmental phenotypes.

38
Q

Define selectional pleiotropy

A

Relates to how a mutation affects fitness

39
Q

What is another example of pleiotropy?

A

Cystic fibrosis

40
Q

True or False? Sex influences the inheritance and expression of genes in a variety of ways

A

True

41
Q

Why does sex influence inheritance and expression of genes?

A

Sex influenced traits are controlled by genes present on autosomes, hence why genes are present in both sexes but expression is different in males vs females because it responds differently to androgens and estrogens

42
Q

What is an example of sex influenced traits in humans?

A

Facial hair. Soft in women. Rough in males. Also male pattern baldness

43
Q

Which characteristics are inherited according to Mendel’s principles?

A

Sex-limited characteristics

44
Q

What is an example of sex-limited characteristics?

A

Precocious puberty in humans

45
Q

What is precocious puberty?

A

When kids start to get into puberty much earlier than they should.

46
Q

What causes precocious puberty?

A

Part environmental (more calories) and some are known mutations in genes. Luteninizing hormone receptor defect and makes it constantly active.

47
Q

What are some examples of sex-influenced and sex-limited characteristics?

A

Genetic maternal effect, genomic imprinting and epigenetics

48
Q

What is genomic imprinting?

A

Differential expression of genetic material depending on whether it is inherited from the male or female parent

49
Q

What is epigenetics?

A

Due to alterations to DNA that dont include changes in the base sequence, often affect the way in which the DNA sequences are expressed.

50
Q

What are imprinted genes?

A

Genes whose expression is determined by the parent that contributed them

51
Q

What is an example of imprinted genes?

A

IGF2. promotes fast growth during embryo development. Moms gene is methylated and inactive and the fathers is operational. If the fathers gets copied everything is good. If the mothers is copied it results in death

52
Q

What is an epigenetic trait?

A

heritable phenotype resulting from changes in a chromosome without alteration in the DNA sequence

53
Q

Define sex-linked characteristic

A

Genes located on the sex chromosome

54
Q

Define sex-influenced characteristic

A

Autosomal genes that are more readily expressed in one sex

55
Q

Define sex-limited characteristic

A

Autosomal genes whos expression is limited to one sex

56
Q

Define genetic Maternal effect

A

Nuclear genotype of maternal parent

57
Q

Define cytoplasmic inheritance

A

Cytoplasmic genes, which are usually inherited from only one parent

58
Q

Define genomic imprinting

A

Genes whos expression is affected by the sex of the transmitting parent

59
Q

Define anticipation

A

A genetic trait becomes more strongly expressed or is expressed at an earlier stage as it is passed from generation to generation

60
Q

Why does anticipation occur?

A

occurs due to expansion of unstable region of DNA from generation to generation

61
Q

True or False? Anticipation is the expansion of an unstable region of DNA from generation to generation

A

True

62
Q

How does Huntington’s disease happen?

A

Natural happens and results in an increase of repeats. Reinforcing cascade. The clinical phenotype is early neuro degeneration.

63
Q

What are two examples of anticipation?

A

Fragile X and Huntington disease

64
Q

What is Fragile X syndrome?

A

Results from a mutation of the FMR1 gene on the X chromosome, commonly an increase in the number of CGG repeats. Learning difficulties.

COB Genetics (32 decks)

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