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Genetics and Genomics in Nursing > Lecture 8 > Flashcards

Lecture 8 Flashcards

1
Q

Mitochondrial genome is inherited by who?

A

The mom

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2
Q

What is the largest cell in the body?

A

Mature Ovum/egg

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3
Q

How many mitochondria does a mature ovum have?

A

100,000

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4
Q

What is the smallest cell in the body?

A

mature sperm

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5
Q

How many mitochondria is in a mature sperm?

A

5

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6
Q

Mitchondria are organelles involved in what?

A

in respiration

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7
Q

Number of mitochondria per cell varies by what?

A

cell type

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8
Q

Mitochondria contain What?

A

a small circular chromosome

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9
Q

How many copies of mtDNA per mitochondrion?

A

2-10 copies

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10
Q

Human mitochondrial chromosomes contains how many genes encoding?

A

37 genes

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11
Q

Within the 37 genes, what does that included?

A

2 rRNAs
22 tRNAs
13 proteins- all involved in oxidative phosphorylation (end of respiration)

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12
Q

When can mutations arise in mtDNA?

A

during DNA replication

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13
Q

What are the reasons why Mutations can arise in mtDNA during DNA replication?

A

-Fewer repair mechanisms then nuclear DNA replication
- Can have different mitochondria in one cell
- During cell division, mitochondria segregate randomly into daughter cells

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14
Q

More then how many different mutation is mtDNA identified can cause human disorders.

A

More then 100

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15
Q

What is the incidence of live birth for mitocjondrial disorders?

A

1 in 10,000

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16
Q

What metabolically active tissues does mitochondrial disorders effect?

A

Musculo-skeletal system
Cardiovascular system
Neurological system

17
Q

Why is mitochondrial disorders highly variable expression?

A

Due to random distribution of mutated mitochondria

18
Q

What is the difference between X and Y sex chromosomes?

A

X is large with many genes
Y is small with few genes

19
Q

X and Y chromosomes are What? Meaning?

A

Pseudoautosomal which allows pairing in meiosis in spermatogenesis

20
Q

How many protein-coding genes are in Y chromosome?

A

71

21
Q

What are some Y-linked traits?

A

penis size, rate of spermatogenesis, timing of onset of puberty

22
Q

How many protein-coding genes are in the X chromosome?

A

842 chromosome

-Some genes required for female sexual development
- Some genes required for nonsexual functions in both males and females

23
Q

In cells with more than one X chromosome what happens?

A

All but one X chromosome is inactivated (barr bodies)

24
Q

What happens once the X chromosome is inactivated?

A

the same X in inactivated in all descendants of the cell

25
Q

In females, each cell is what for X-linked genes?

A

Hemizygous

26
Q

What happens if a females has a heterozygous locus?

A

Half of the cells express one allele and half express the other allele.

27
Q

The X-linked traits are determined by genes on what Chromosome?

A

X chromosomes

28
Q

Affected woman passes trait to all her sons but why not her daughter?

A

If the dad is unaffected, the normal jean will be dominant over the recessive jean.

29
Q

Inheritance of X-linked recessive traits is higher in males or females?

A

Males

30
Q

TRUE or FALSE
Traits are not passed from affected father to son

A

TRUE
Mom has control of the X jean
Dad has the Y gene

31
Q

X-linked recessive alleles show what is males and females?

A

Females- recessive expression
Males- Dominant expression

32
Q

What are the steps of a blood clot?

A
  1. injury
  2. Vascular spasm
  3. Platelet Plug formation
  4. Coagulation
33
Q

What is hemophilia?

A

a monogenic disorder caused by a variety of different mutations in the gene that encodes factor VIII clotting factor.
It doesn’t allow platelets to form clots to stop the bleeding

34
Q

What is incidence birth rate for Hemophilia?

A

1in 5,000 (males)

35
Q

What are the signs & symptoms of hemophilia

A

Bruising and excessive bleeding in response to any trauma during infancy

Extensive joint damage in weight-bearing joints (hips,ankles, knees)

36
Q

How do you manage Hemophilia?

A

regular infusions of factor VIII

Genetics and Genomics in Nursing (10 decks)

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