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01 Cell > 2.20 Usual and Unusual Patterns of Inheritance in Genetics > Flashcards

2.20 Usual and Unusual Patterns of Inheritance in Genetics Flashcards

1
Q

Science that deals with heredity and variation in organisms, including the genetic features and constitution of a single organism, species or group and with the mechanisms by which they are affected

A

Genetics

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2
Q

About similarities and differences

A

Genetics

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3
Q

Biological maps that tell us who we are, where we came from and how we are related to other creatures

A

Genes

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4
Q

Human genome is 75% homologous to ___; 98.7% homologous to ___; and 99% homologous to ___.

A

C. elegans
Chimpanzee
Mouse

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5
Q

Gene responsible for the gift of gab/language

A

FOXP2 gene at chromosome 2

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6
Q

22 chromosome pairs are ___ and ___

A

Autosome

Homologous

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7
Q

23rd pair contains ____

A

Sex chromosome

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8
Q

Carries genes responsible for many hereditary traits

A

X chromosome

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9
Q

Full set of chromosomes in the cell of a person

A

Karyotype

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10
Q

Genetic material

A

DNA

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11
Q

Size of human genome

A

3 B base pairs making up 22-25K genes varying in length

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12
Q

Human Genome

Less than 2% code for ___

A

Proteins

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13
Q

Human Genome

90% are sometimes called ___, important in regulation of gene expression, introns

A

Junk DNA

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14
Q

Human Genome

__ of bases are exactly the same in all people

A

99.9%

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15
Q

Variations or mutations in genes may have negative effects and lead to disease or increase susceptibility to disease

A

Normal protein vs. Low or nonfunctional protein

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16
Q

AAATTT&raquo_space;> AATTTT

Cause no negative effect

A

Single nucleotide polymorphism

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17
Q

AAATTT»>AACTTT

Can lead to disease or higher susceptibility to disease

A

Low or non-functioning protein

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18
Q

Marfan’s syndrome
Sickle cell anemia
Cystic fibrosis

A

Single gene disorders

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19
Q

Diabetes, Hypertension
Variations in the gene, which lead to disease or increase susceptibility
Extent of interactions of various risk factors remains unknown

A

Complex gene disorders

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20
Q

Study of the set of the chemical reactions and the factors that triggers the activation/deactivation of parts of the genome at strategic times and locations

A

Epigenetics

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21
Q

Epigenetic mechanisms are affected by factors such as

A

Development in utero
Environmental chemicals
Drugs/pharmaceuticals
Aging

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22
Q

View that genes cause traits and can no longer be altered

A

Genetic determinism

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23
Q

Your genes dictate who you are

A

Genetic determinism

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24
Q

Major activity and key factor in clinical genetics
Aid in reaching a correct diagnosis
One of the most useful and accessible tools available to physicians caring for patients with genetic diseases

A

Family History

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25
Q

When taking a family history

A

Make it relevant to the present illness
Ask about early onset preventable diseases
Ask about first-degree relatives
Ask about informative relatives (Proband and consultand)
Record racial and ethnic background
Inquire about consanguinity
Keep it up to date

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26
Q

First affected individuals in a family who brings genetic disorder to the attention of the medical community

A

Proband

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27
Q

Individual presenting for genetic counseling

Not necessarily affected

A

Consultand

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28
Q

Graphic representation of a medical family history of disease using symbols

A

Pedigree

29
Q

Provides both critical medical data and biological relationship information at a glance

A

Pedigree

30
Q

Confounding factors in recognizing patterns of inheritance

A 
Variable expressivity
Clinical or genetic heterogeneity
Sex-influenced or sex-limited gene expression
Assortative mating
Small paternity size
31
Q

Tongue-rolling

A

Dominant

32
Q

Cleft-chin

A

Dominant

33
Q

Dimples

A

Dominant

34
Q

Attached ear lobe

A

Recessive

35
Q

Hitchhiker’s thumb

A

Dominant

36
Q

The genotype of an affected individual in autosomal dominant inheritance

A

AA

Aa

37
Q

True or false

Male-to-male transmission occurs in autosomal dominant inheritance

A

True

38
Q

Each offspring has __ chance of being affected in autosomal dominant inheritance

A

50%

39
Q

True or false

Only males are affected in autosomal dominant inheritance.

A

False

Males and females are affected in equal proportion

40
Q

Characteristics of autosomal dominant inheritance

A

Affected genotype: AA or Aa
Offspring has 50% chance of being affected
Males and females affected in equal proportion
Male-to-male transmission occurs

41
Q

Examples of autosomal dominant inheritance

A 
Achondroplasia
Crouzon syndrome
Apert syndrome
Marfan syndrome
Ehlers-Danlos syndrome
42
Q

Autosomal dominant inheritance usually involve ___

A

Structural proteins

43
Q

The genotype of affected individual in autosomal recessive inheritance

A

aa

44
Q

In autosomal recessive inheritance, each offspring has __ chance of getting affected when both parents are carriers of a single copy of the gene

A

25%

45
Q

True or false

Autosomal recessive inheritance skips generation

A

True

46
Q

The genotype of carrier individual in autosomal recessive inheritance

A

Aa

47
Q

True or false

In autosomal recessive inheritance, only female is affected

A

False

Males and females are affected equally

48
Q

Autosomal recessive:
One affected + one carrier = __ chance of being affected
One affected + one not affected = __ chance of carrier
Both are carriers = ___ affected, ___ carrier

A

50%
100%
25%; 50%

49
Q

Characteristics of Autosomal Recessive Inheritance

A

Affected gene: aa
Must ask about consanguinity
Affect males and females equally
Skip generations

50
Q

Examples of genetic disorders with autosomal recessive inheritance

A

Harlequin baby
Mucopolysaccharidosis Type I Hurler
Maple Syrup Urine Disease
Galactosemia

51
Q

Affected genotypes for X-linked recessive inheritance

A

XaY or XaXa

52
Q

True or false

In X-linked recessive inheritance, all daughters of affected males are carriers

A

True

53
Q

True or false

In X-linked recessive inheritance, there is no mother-to-daughter transmission

A

False

There is no father-to-son transmission

54
Q

Characteristics of x-linked recessive inheritance

A

Incidence higher in males
Daughters of affected males are carriers (obligate carriers)
No-father-to-son transmission

55
Q

Examples of x-linked recessive inheritance

A

Duchenne Muscular Dystrophy

Mucopolysaccharidosis Type II Hunter

56
Q

In x-linked dominant inheritance, a male or female child of an affected mother has a __ chance of inheriting the mutation and thus being affected with the disorder

A

50%

57
Q

Example of X-linked dominant inheritance

A

Rett syndrome

58
Q

Participation of environmental factors, not just genetic

Only those who reach threshold make up the affected population

A

Multifactorial inheritance

59
Q

Example of disorders associated with multifactorial inheritance

A

Oral Clefts
Neural tube defect
Pyloric stenosis

60
Q

Mother-related disease

Affected mom: all offspring will inherit the disease

A

Mitochondrial inheritance

61
Q

Mixture of mutated and non-mutated mitochondrial DNA

A

Heteroplasmy

62
Q

Either all mutated or all non-mutated mitochondira

A

Homoplasmy

63
Q

Explains the variable expression of mitochondrial DNA

A

Homoplasmy vs. heteroplasmy

64
Q

An expansion of a segment of DNA that contains a repeat of 3 nucleotides

A

Triple expansion disorders

65
Q

Examples of triple expansion disorders

A

Myotonic dystrophy
Fragile X syndrome
Huntington’s disease

66
Q

Only one copy of the gene is expressed

A

Genomic imprinting

67
Q

Expression of the gene is variable depending on which parent the gene came from
The active gene is preferentially always from one parent over the other

A

Epigenetic phenomenon

68
Q

Examples of disorders associated with genomic impirnting

A

Prader-Willi Syndrom

Angelman syndrome

01 Cell (22 decks)

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