Patterns of Inheritance Flashcards

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1
Q

alleles that lead to the expression of the allele whether the individual is homo- or heterozygous for that gene

A

Autosomal Dominant Alleles

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2
Q

alleles that are only expressed when the individual is homozygous recessive for that gene

A

Autosomal Recessive Alleles

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3
Q

a family tree diagram that depicts the inheritance of a trait or disease through several generations

A

Pedigree

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4
Q

What can a Pedigree be used for?

A

To identify if a trait or disease is autosomal dominant or autosomal recessive

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5
Q

Autosomal disorders that do NOT skip generations

A

Autosomal Dominant Disorders

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6
Q

Autosomal disorders that skip generations

A

Autosomal Recessive Disorders

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7
Q

a characteristic pattern of inheritance exhibited by genes located on a sex chromosome

A

Sex Linkage

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8
Q

a non-Mendelian inheritance pattern that can give rise to a variety of phenotypes because of the gene interactions and interactions between genes and their environment

A

Multifactorial (Complex) Traits

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9
Q

a thread-like structure of tightly coiled DNA that contains part or all of an organism’s genetic material

A

Chromosome

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10
Q

any chromosomes that are not sex chromosomes

A

Autosomes

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11
Q

a pair of chromosomes that determine whether an organism is male or female

A

Sex Chromosomes

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12
Q

What sex chromosomes can males pass to offspring?

A

1 X or 1 Y

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13
Q

What sex chromosomes can females pass to their offspring?

A

1 of their 2 X’s

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14
Q

How many chromosomes do humans have? How many of those are autosomes vs sex chromosomes?

A

46 chromosomes
22 pairs of autosomes
1 pair of sex chromosomes

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15
Q

an organized profile of an organism’s chromosomes in the nucleus

A

Karyotype

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16
Q

the identical copies of each chromosome that are joined by the centromere

A

Sister Chromatids

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17
Q

where 2 sister chromatids are joined

A

Centromeres

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18
Q

an image of chromosomes arranged by size and other characteristics

A

Karyogram

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19
Q

What 2 things are karyograms used for?

A
  1. To create karyotypes
  2. To diagnose chromosomal aberrations
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20
Q

an organism with the appropriate number of chromosomes for the species

A

Euploid

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21
Q

an organism with more or less than the appropriate number of chromosomes for the species

A

Aneuploid

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22
Q

the process of disabling 1 of the 2 female X chromosomes to prevent females from having twice as many gene products from the X chromosome as males

A

X-Inactivation

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23
Q

inactivated X chromosomes

A

Barr Bodies

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24
Q

What 2 situations does X-inactivation occur?

A
  1. Only in females (typically)
  2. Early in embryonic development
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25
Q

Which female sex chromosome is deactivated?

A

1 of their sex chromosomes (Xs) are randomly deactivated

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26
Q

What is an example of X-inactivation?

A

Calico Cats

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27
Q

Pedigree Symbols:
square

A

male

28
Q

Pedigree Symbols:
circle

A

female

29
Q

Pedigree Symbols:
square + circle joined by lateral line

A

Mating Pair

30
Q

Pedigree Symbols:
mating pair symbol connected by a vertical line to other symbols

A

Parents-Children

31
Q

Pedigree Symbols:
any combo of circles and squares connected by an upward facing carat

A

Dizygotic (Non-Identical) Twins

32
Q

Pedigree Symbols:
a triangle with 2 circles or squares

A

Monozygotic (Identical) Twins

33
Q

Pedigree Symbol:
diamond

A

Unspecified Sex

34
Q

Pedigree Symbol:
a number inside a circle or square

A

Number of Children

35
Q

Pedigree Symbol:
shaded symbol

A

Affected Individuals

36
Q

Pedigree Symbol:
half shaded symbol

A

Heterozygous for Autosomal Recessive Gene

37
Q

Pedigree Symbol:
a dot in the center of a symbol

A

Carrier of a Sex-Linked Recessive Condition

38
Q

Pedigree Symbol:
diagonal line through a symbol

A

Death

39
Q

Pedigree Symbol:
shaded circle with a line from the top

A

Abortion or Stillbirth

40
Q

Pedigree Symbol:
a shaded square with an arrow in the lower left

A

Propositus

41
Q

the 1st identified individual who exhibits an inherited disease or disorder

A

Propositus

42
Q

Pedigree Symbol:
a number outside a symbol

A

Where in the pedigree an individual occurs

43
Q

Pedigree Symbol:
circle + square connected by 2 horizontal lines

A

Consanguineous Marriage (Blood-Related) Pairing

44
Q

disorders in which people who have 1 or 2 copies of the recessive allele exhibit the disorder themselves since they do not have a dominant allele to mask it

A

Sex-Linked Recessive Disorders

45
Q

disorders in which the people have 1 or 2 mutated alleles and exhibit the disorder themselves

A

Autosomal Dominant Disorders

46
Q

Heterozygous individuals with an Autosomal Dominant Disorder > have a _____ chance of passing the mutated allele to each child

A

50%

47
Q

Homozygous individuals with an Autosomal Dominant Disorder > have ____ chance of passing a mutated allele to each child

A

100%

48
Q

Give an example of an autosomal dominant disorder

A

Huntington’s Disease

49
Q

What scenarios cause daughters to exhibit sex-linked recessive disorders?

A

They must receive mutated alleles from BOTH parents or they will not exhibit the disorder

50
Q

What kind of inheritance patterns can you see in Pedigrees for sex-linked recessive disorders?

A

They skip generations

51
Q

Which chromosome passes on sex-linked recessive disorders?

A

Both - they can be passed on via the X or Y chromosome

52
Q

If a mother exhibits a sex-linked recessive disorder, what conclusions can be drawn about her sex chromosomes?

A

Both her Xs are affected by the mutated allele

53
Q

If a mother exhibits a sex-linked recessive disorder > ____ of her sons will inherit a mutated X chromosome

Why?

A

100%

The son won’t have another X chromosome to mask it

54
Q

If a mother is a carrier for a sex-linked recessive disorder > each son has ____ chance of being affected.

Why?

A

50%

There is a 50% chance he inherits the unaffected chromosome

55
Q

If a mother is a carrier for a sex-linked recessive disorder, what conclusions can be drawn about her sex chromosomes and her gene expression?

A

Only 1 of her 2 Xs are affected by the mutated allele

She does not exhibit the disorder, but her offspring might

56
Q

family members with only 1 copy of the mutated recessive allele for a given gene that don’t display the trait themselves but can pass it to offspring

A

Carriers

57
Q

Give an example of sex-linked recessive disorders

A

Red-green colorblindness

58
Q

a genomic sequencing method used to determine the genetic sequences of long strands of DNA

A

Shotgun Sequencing

59
Q

What are the 3 steps to Shotgun Sequencing?

A
  1. DNA is randomly broken up into many small fragments
  2. Each fragment is sequenced
  3. A computer program reassembles the DNA fragments
60
Q

the science of collecting and analyzing complex biological data

A

Bioinformatics

61
Q

the rearrangement and exchange of genetic information from different sources

A

Genetic Recombination

62
Q

choosing to breed organisms that will result in offspring with desired characteristics

A

Selective Breeding

63
Q

a type of selective breeding that occurs when individuals with similar characteristics continue to be bred to keep a certain set of traits

A

Inbreeding

64
Q

organisms that have both their original DNA and the genes of other organisms, have certain genes deleted, or have already present genes manipulated

A

Transgenic Organisms

65
Q

a rare genetic pattern in which a genetic mutation causes a single fertilized egg results in an individual with 2 different genomes

A

Mosaicism

66
Q

a way for individuals to find out more about their individual genetic makeup and can diagnose many disorders

A

Genetic Testing