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DMST 244 OBGYN 1 > Module 10.1: Heredity > Flashcards

Module 10.1: Heredity Flashcards

1
Q

What is a Genotype?

A

Your DNA resulting in your genetic makeup

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2
Q

Genotypes are a combination of what?

A

Alleles possessed of a specific gene

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3
Q

What is a phenotype?

A

Combination of observable characteristics or traits - what you look like

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4
Q

What are included in phenotypes?

A

Only genes that are expressed

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5
Q

_______ is directly inherited from parents. ________ is not, however is influenced by genotypes

A
  1. Genotypes and phenotypes
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6
Q

_______________ are variants of a particular gene due to changes in gene sequences

A

Alleles

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7
Q

For each gene there can how many different alleles?

A

Many

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8
Q

An ______ is one specific way a particular gene can be expressed

A

Allele

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9
Q

What are two basic characteristics of an allele are?

A
  1. Dominant
  2. Recessive
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10
Q

What does allele affect?

A

Affects the phenotype when present in one copy

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11
Q

How many alleles must be present for a recessive allele to show up

A

Must be present in 2 copies to be expressed

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12
Q

What is a punnet square?

A

Graphical representation of the possible genotypes two individuals can produce when combined

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13
Q

What is the punnet square based on?

A

Alleles from both parents

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14
Q

A punnet square is a map of what?

A

Statistical outcomes or risks of inheriting a disease or condition

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15
Q

What is a dominant and recessive expressive in the punnet square

A
  1. Dominant expressed as Big B
  2. Recessive expressed as little b
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16
Q

Humans have how many pairs of chromosomes? How many are sex chromosomes and how many are autonomies? 3

A
  1. 23 pairs
  2. 2 sex hormones
  3. 44 autosomes
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17
Q

What is meiosis?

A

Division of a cell that reduces the number of chromosomes to half

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18
Q

What is an example of meiosis?

A

Diploid&raquo_space;> haploid

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19
Q

What does meiosis entail?

A

Two divisions of the genetic material

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20
Q

During meiosis if there is a production of four haploid cells, what assortment of genes and chromosomes does each carry?

A

New assortment of genes and chromosomes

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21
Q

What does this image represent?

A

Meiosis

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22
Q

What is the mode of inheritance depend on? 2

A
  1. On whether an allele is dominant or recessive
  2. Also whether the gene that determines that trait appears on a sex chromosome or an autosome
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23
Q

One person carries more than how many possible combinations of a chromosome? How?

A

More than 8 million
1. +8 million combination of his or her partner
2. = A potential variability of 70 trillion genetic unique individuals

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24
Q

What does homozygous mean?

A

An individual with 2 identical alleles for a gene

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25
Q

What is heterozygous?

A

An individual with 2 different alleles for a gene

26
Q

__________disorders tend to be more severe and produce symptoms when?

A
  1. Recessive disorders
  2. Produce symptoms at a much earlier age
27
Q

_________disorders are not as common because these people are what?

A
  1. Dominant disorders
  2. These people are too sick to reproduce, thus the allele vanishes from the population
28
Q

Dominant disorders that do not present until adulthood remain in populations why?

A

These individuals can reproduce passing on the disorder

29
Q

Is it possible for alleles be co-dominant? If yes what is an example?

A

Yes, such as in AB blood type

30
Q

What is Tourette syndrome an example of?

A

Autosomal dominant, but has many different symptoms

31
Q

What is cystic fibrosis an example of?

A

Autosomal recessive

32
Q

What is Marfan syndrome an example of?

A

Autosomal dominant

33
Q

What is Marfan syndrome? What are signs and symptoms? 5

A
  1. Connective tissue disorder caused by a defect in the gene that tells the body to make fibrillin
  2. Long limbs
  3. Pectus excavatum
  4. Aortic aneurysm +/- dissection
  5. Lens dislocation
34
Q

What is uniparental disomy?

A

Two copies of an allele from one parent

35
Q

What is an example of uniparental disomy? 2

A
  1. It was discovered when a girl expressed cycstic fibrosis even though her mother was the only carrier of the recessive allele.
  2. This child received both the genes from the Mother
36
Q

A Male inherits which chromosome from his father and which from his mother?

A
  1. Y from father
  2. X from mother
37
Q

Females inherit which chromosomes from each parent?

A

X chromosomes from each parent

38
Q

Are X linked traits passed from father to son?

A

Never

39
Q

Can a father pass a X chromosome to his male child?

A

No

40
Q

What is an example of an X linked trait? Who are carriers?

A
  1. Hemophilia
  2. Daughters are carriers, because her fathers X chromosome would make that mutant allele
41
Q

What is Klinefelter syndrome?

A

Males with an extra X chromosome passed on from mother

42
Q

What are some signs and symptoms of Klinefelter syndrome? 3

A
  1. Underdeveloped sexually - rudimentary testes and prostate
  2. Long arms and legs, large hands and feet.
  3. No pubic or facial hair, may develop Brest tissue
43
Q

How common is Klinefelter’s syndrome? 3

A
  1. Common
  2. 1 in 500 Male births.
  3. Most men do not know they have it until fertility becomes a problem
44
Q

What is Jacobs syndrome?

A

Males with an extra Y chromosomes passed on from their father

45
Q

What are some signs and symptoms of Jacob’s syndrome? How common is it? Who is affected? 3

A
  1. Aggressive behaviour
  2. Higher prevalence among inmates in jails however there are many men leading normal lives who are XYY
  3. 1 in 1000 male births
46
Q

What may lead to variation of genes?

A

Exposure to viruses, drugs or radiation can cause these change to genes.

47
Q

What is deletion?

A

Part of the chromosome is missing

48
Q

What is duplication?

A

Extra genes

49
Q

What is translocation?

A

Gene has moved to another chromosome

50
Q

What is inversion?

A

Genes switched position on the chromosome arm

51
Q

Wha is the most common live born chromosomal abnormality?

A
  1. Trisomy 21
  2. 1 in 800 births
52
Q

______ is usually a random event and not inherited

A

T21

53
Q

Most cases of T21 are due to what?

A

Maternal Nondisjunction

54
Q

Nondisjunction occurs when? 2

A
  1. The chromosomes do not separate in meiosis
  2. Thus causing +1 or -1 chromosomes in gametes
55
Q

What increases the incidence of Nondisjunction?

A

Maternal age

56
Q

Some cases of T21 are due to what?

A

Genetic translocation- this can be inherited

57
Q

If an individual has a _________ they may not show any signs - normal, health individual. This individual has an increased chance having children with what?

A
  1. Translocation
  2. Down syndrome
58
Q

Do the two copies of the genes received from each parent have to be identical?

A

No

59
Q

What does this image demonstrate?

A

Autosomal Dominant gene inheritance

60
Q

What does this image demonstrate

A

Autosomal recessive gene inheritance

61
Q

What does this image demonstrate?

A

X linked recessive gene inheritance

DMST 244 OBGYN 1 (22 decks)

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