Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

GBA Genetics > Genetics - First Aid USMLE > Flashcards

Genetics - First Aid USMLE Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

Modes of inheritance

What mode of Inheritance is presented here?

A

Modes of inheritance

X-linked recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Inheritance Pattern of:

Wiskott-Aldrich syndrome

A

Inheritance Pattern

Wiskott-Aldrich syndrome - X-linked Recessive

Mneumonic: Obliviously Female Will Often Give Her Boys Her x-Linked Disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Loss of heterozygosity

A

Genetics - First Aid 2019

Example(s) for -​ Loss of heterozygosity

Retinoblastoma and the “two-hit hypothesis,”
Lynch syndrome (HNPCC), Li-Fraumeni
syndrome.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Genetic disorders by Chromosome

Cri-du-chat syndrome, familial adenomatous polyposis

A

Genetic disorders by Chromosome

Cri-du-chat syndrome, familial adenomatous polyposis

Chromosome 5

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Inheritance Pattern of:

Familial Adenomatous Polyposis

A

Inheritance Pattern

Familial Adenomatous Polyposis- Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Inheritance Pattern of:

Ornithine transcarbamylase deficiency

A

Inheritance Pattern

Ornithine transcarbamylase deficiency - X-linked Recessive

Mneumonic: Obliviously Female Will Often Give Her Boys Her x-Linked Disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Codominance

A

Genetics - First Aid 2019

Example(s) for -​ Codominance

Blood groups A, B, AB; α1-antitrypsin
deficiency; HLA groups.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Inheritance Pattern of:

Friedreich ataxia

A

Inheritance Pattern

Friedreich ataxia - Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Inheritance Pattern of:

Achondroplasia

A

Inheritance Pattern

Achondroplasia - Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Inheritance Pattern of:

Bruton agammaglobulinemia

A

Inheritance Pattern

Bruton agammaglobulinemia - X-linked Recessive

Mneumonic: Obliviously Female Will Often Give Her Boys Her x-Linked Disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Genetic disorders by Chromosome

von Hippel-Lindau disease, renal cell carcinoma

A

Genetic disorders by Chromosome

von Hippel-Lindau disease, renal cell carcinoma

Chromosome 3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Inheritance Pattern of:

Ocular albinism

A

Inheritance Pattern

Ocular albinism - X-linked Recessive

Mneumonic: Obliviously Female Will Often Give Her Boys Her x-Linked Disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Modes of inheritance

Autosomal dominant: Often due to defects in ________ genes. Many generations, both males and females are affected.

A

Modes of inheritance

Autosomal dominant: Often due to defects in structural genes. Many generations, both males and females are affected.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Modes of inheritance

What mode of Inheritance is presented here?

A

Modes of inheritance

Autosomal ressecive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Inheritance Pattern of:

Li-Fraumeni syndrome

A

Inheritance Pattern

Li-Fraumeni syndrome - Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Genetics - First Aid 2019

Genetic terms: Definition

Locus heterogeneity

A

Genetics - First Aid 2019

Definition: Locus heterogeneity

Mutations at different loci can produce a similar
phenotype.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Inheritance Pattern of:

Oculocutaneous albinism

A

Inheritance Pattern

Oculocutaneous albinism- Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Inheritance Pattern of:

von Hippel-Lindau disease

A

Inheritance Pattern

von Hippel-Lindau disease - Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Genetics - First Aid 2019

Genetic terms: Definition

Pleiotropy

A

Genetics - First Aid 2019

Definition: Pleiotropy

One gene contributes to multiple phenotypic
effects.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Inheritance Pattern of:

Fabry disease

A

Inheritance Pattern

Fabry disease- X-linked Recessive

Mneumonic: Obliviously Female Will Often Give Her Boys Her x-Linked Disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Inheritance Pattern of:

Multiple Endocrine Neoplasias (MEN)

A

Inheritance Pattern

Multiple Endocrine Neoplasias (MEN) - Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Genetic disorders by Chromosome

ADPKD (PKD1), α-globin gene defects (eg, α-thalassemia), tuberous sclerosis (TSC2)

A

Genetic disorders by Chromosome

ADPKD (PKD1), α-globin gene defects (eg, α-thalassemia), tuberous sclerosis (TSC2)

Chromosome 16

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Inheritance Pattern of:

Mucopolysaccharidoses (except Hunter syndrome)

A

Inheritance Pattern

Mucopolysaccharidoses - Autosomal Recessive

(except Hunter syndrome)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Variable expressivity

A

Genetics - First Aid 2019

Example(s) for -​ Variable expressivity

2 patients with neurofibromatosis type 1 (NF1) or Polydactyly may have varying disease severity.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Genetic disorders by Chromosome

Neurofibromatosis type 1, BRCA1, TP53

A

Genetic disorders by Chromosome

Neurofibromatosis type 1, BRCA1, TP53

Chromosome 17

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Modes of inheritance

Mitochondrial inheritance: Mitochondrial myopathies

A

Modes of inheritance

Mitochondrial myopathies - rare disorders;
often present with myopathy, lactic acidosis,
and CNS disease, eg, MELAS syndrome
(mitochondrial encephalomyopathy, lactic
acidosis, and stroke-like episodes). 2° to
failure in oxidative phosphorylation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Inheritance Pattern of:

Hereditary Spherocytosis

A

Inheritance Pattern

Hereditary Spherocytosis - Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Disorders of imprinting

Prader-Willi syndrome - Chromosome and Disomy Associated:

A

Disorders of imprinting

Prader-Willi syndrome - Associated with:

Associated with a mutation or deletion of chromosome 15 of paternal origin. Prader has no Papa (Paternal deletion).

25% of cases are due to maternal uniparental disomy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Inheritance Pattern of:

hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)

A

Inheritance Pattern

hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) - Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Inheritance Pattern of:

Hemochromatosis

A

Inheritance Pattern

Hemochromatosis - Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Heteroplasmy

A

Genetics - First Aid 2019

Example(s) for -​ Heteroplasmy

mtDNA passed from mother to all children.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Genetics - First Aid 2019

Genetic terms: Definition

Anticipation

A

Genetics - First Aid 2019

Definition: Anticipation

Increased severity or earlier onset of disease in
succeeding generations.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Genetics - First Aid 2019

If a population is in _Hardy-Weinberg
equilibrium_ and if p and q are the frequencies
of separate alleles, then: p2 + 2pq + q2 = 1 and
p + q = 1, which implies that:

A

Genetics - First Aid 2019
Hardy-Weinberg equilibrium: The values of p and q remain constant from generation to generation.
p2 = frequency of homozygosity for allele A
q2 = frequency of homozygosity for allele a
2pq = frequency of heterozygosity (carrier
frequency, if an autosomal recessive disease).
The frequency of an X-linked recessive disease
in males = q and in females = q2.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Incomplete Penetrance

A

Genetics - First Aid 2019

Example(s) for -​ Incomplete Penetrance

BRCA1 gene mutations do not always result in
breast or ovarian cancer.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Inheritance Pattern of:

Cystic Fibrosis

A

Inheritance Pattern

Cystic Fibrosis - Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Inheritance Pattern of:

Marfan syndrome

A

Inheritance Pattern

Marfan syndrome - Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Genetics - First Aid 2019

Genetic terms: Definition

Incomplete Penetrance

A

Genetics - First Aid 2019

Definition: Incomplete Penetrance

Not all individuals with a mutant genotype
show the mutant phenotype.

% penetrance × probability of inheriting
genotype = risk of expressing phenotype.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Inheritance Pattern of:

PKU

A

Inheritance Pattern

Phenylketonuria - Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Genetics - First Aid 2019

Genetic terms: Definition

Dominant negative mutation

A

Genetics - First Aid 2019

Definition: Dominant negative mutation

Exerts a dominant effect. A heterozygote
produces a nonfunctional altered protein that
also prevents the normal gene product from
functioning.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Genetics - First Aid 2019

Genetic terms: Definition

Allelic heterogeneity

A

Genetics - First Aid 2019

Definition: Allelic heterogeneity

Different mutations in the same locus
produce the same phenotype.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Genetic disorders by Chromosome

Hemochromatosis (HFE)

A

Genetic disorders by Chromosome

Hemochromatosis (HFE)

Chromosome 6

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Genetics - First Aid 2019

Genetic terms: Definition

X-inactivation (lyonization)

A

Genetics - First Aid 2019

Definition: X-inactivation (lyonization)

one copy of female X chromosome forms a
transcriptionally inactive Barr body. Female
carriers variably affected depending on the
pattern of inactivation of the X chromosome
carrying the mutant vs normal gene.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Genetics - First Aid 2019

Genetic terms: Definition

Linkage disequilibrium

A

Genetics - First Aid 2019

Definition: Linkage disequilibrium

Tendency for certain alleles at 2 linked
loci to occur together more or less often
than expected by chance. Measured in a
population, not in a family, and often varies in
different populations.

44
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Pleiotropy

A

Genetics - First Aid 2019

Example(s) for -​ Pleiotropy

Untreated phenylketonuria (PKU) manifests with
light skin, intellectual disability, and musty body
odor.
45
Q

Inheritance Pattern of:

Wilson disease

A

Inheritance Pattern

Wilson disease - Autosomal Recessive

46
Q

Modes of inheritance

What mode of Inheritance is presented here?

A

Modes of inheritance

Autosomal dominant

47
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Mosaicism

A

Genetics - First Aid 2019

Example(s) for -​ Mosaicism

McCune-Albright syndrome—Gs-protein
activating mutation leads to unilateral
café-au-lait spots with ragged edges, polyostotic fibrous dysplasia (bone is replaced by collagen and fibroblasts), and at least one endocrinopathy (eg, precocious puberty). Lethal if mutation occurs before fertilization (affecting all cells), but survivable in patients with mosaicism.

48
Q

Inheritance Pattern of:

Thalassemias

A

Inheritance Pattern

Thalassemias - Autosomal Recessive

49
Q

Genetics - First Aid 2019

Genetic terms: Definition

Uniparental disomy

A

Genetics - First Aid 2019

Definition: Uniparental disomy

Offspring receives 2 copies of a chromosome from
1 parent and no copies from the other parent. Uniparental is euploid. Most occurrences of uniparental disomy result in normal phenotype.

50
Q

Modes of inheritance

Autosomal dominant: Often _______ (multiple apparently unrelated effects) and _______ _______ (different between individuals). Family history crucial
to diagnosis. With one affected (heterozygous)
parent, on average, ½ of children affected.

A

Modes of inheritance

Autosomal dominant: Often pleiotropic (multiple apparently unrelated effects) and variably expressive (different between individuals). Family history crucial
to diagnosis. With one affected (heterozygous)
parent, on average, ½ of children affected.

51
Q

Disorders of imprinting

AngelMan syndrome - Chromosome and Disomy Associated:

A

Disorders of imprinting

AngelMan syndrome - Associated with:

Associated with mutation or deletion of
the UBE3A gene on the maternal copy of
chromosome 15.
5% of cases due to paternal uniparental disomy.

52
Q

Inheritance Pattern of:

ARPKD

A

Inheritance Pattern

ARPKD - Autosomal Recessive

(Autosomal Recessive Polycystic Kidney Disease)

53
Q

Modes of inheritance

Mitochondrial inheritance: Transmitted only through the mother. ___ offspring of affected females may show signs of disease. _______ ________ in a population or even within a family due to heteroplasmy.

A

Modes of inheritance

Mitochondrial inheritance: Transmitted only through the mother. All offspring of affected females may show signs of disease. Variable expression in a population or even
within a family due to heteroplasmy.

54
Q

Inheritance Pattern of:

Tuberous Sclerosis

A

Inheritance Pattern

Tuberous Sclerosis - Autosomal Dominant

55
Q

Inheritance Pattern of:

Hunter syndrome

A

Inheritance Pattern

Hunter syndrome - X-linked Recessive

Mneumonic: Obliviously Female Will Often Give Her Boys Her x-Linked Disorders

56
Q

Genetics - First Aid 2019

Genetic terms: Definition

Codominance

A

Genetics - First Aid 2019

Definition: Codominance

Both alleles contribute to the phenotype of the
heterozygote.

57
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Anticipation

A

Genetics - First Aid 2019

Example(s) for -​ Anticipation

Trinucleotide repeat diseases (eg, Huntington
disease).

58
Q

Genetics - First Aid 2019

Genetic terms: Definition

Loss of heterozygosity

A

Genetics - First Aid 2019

Definition: Loss of Heterozygosity

If a patient inherits or develops a mutation in
a tumor suppressor gene, the complementary
allele must be deleted/mutated before cancer
develops. This is not true of oncogenes.

59
Q

Genetic disorders by Chromosome

ADPKD (PKD2), achondroplasia, Huntington disease

A

Genetic disorders by Chromosome

ADPKD (PKD2), achondroplasia, Huntington disease

Chromosome 4

60
Q

Genetics - First Aid 2019

Genetic terms: Definition

Imprinting

A

Genetics - First Aid 2019

Imprinting

one gene copy is silenced by methylation, and only the other copy is expressed → parent-of-origin effects.

61
Q

Inheritance Pattern of:

Sickle Cell anemia

A

Inheritance Pattern

Sickle Cell anemia - Autosomal Recessive

62
Q

Genetic disorders by Chromosome

Edwards syndrome

A

Genetic disorders by Chromosome

Edwards syndrome

Chromosome 18

63
Q

Genetic disorders by Chromosome

Prader-Willi syndrome, Angelman syndrome, Marfan syndrome

A

Genetic disorders by Chromosome

Prader-Willi syndrome, Angelman syndrome, Marfan syndrome

Chromosome 15

64
Q

Genetics - First Aid 2019

Genetic terms:

Hardy-Weinberg law assumptions (4)

A

Genetics - First Aid 2019

Hardy-Weinberg law assumptions include:

  • No mutation occurring at the locus
  • Natural selection is not occurring
  • Completely random mating
  • No net migration
65
Q

Genetics - First Aid 2019

Genetic terms: Definition

Somatic Mosaicism

A

Genetics - First Aid 2019

Definition: Somatic Mosaicism

Presence of genetically distinct cell lines in the
same individual. In Somatic mosaicism, the mutation arises from mitotic errors after fertilization and propagates through multiple tissues or organs.

66
Q

Genetic disorders by Chromosome

Down syndrome

A

Genetic disorders by Chromosome

Down syndrome

Chromosome 21

67
Q

Modes of inheritance

X-linked Dominant: Example(s)

A

Modes of inheritance

Hypophosphatemic rickets—formerly known as
vitamin D–resistant rickets. Inherited disorder
resulting in higher phosphate wasting at proximal
tubule. Results in rickets-like presentation.
Other examples: fragile X syndrome, Alport
syndrome.

68
Q

Genetic disorders by Chromosome

Wilms tumor, β-globin gene defects (eg, sickle cell disease, β-thalassemia), MEN1

A

Genetic disorders by Chromosome

Wilms tumor, β-globin gene defects (eg, sickle cell disease, β-thalassemia), MEN1

Chromosome 11

69
Q

Inheritance Pattern of:

Duchenne (and Becker) muscular dystrophy

A

Inheritance Pattern

Duchenne (and Becker) muscular dystrophy - X-linked Recessive

Mneumonic: Obliviously Female Will Often Give Her Boys Her x-Linked Disorders

70
Q

Inheritance Pattern of:

Hemophilia A and B

A

Inheritance Pattern

Hemophilia A and B - X-linked Recessive

Mneumonic: Obliviously Female Will Often Give Her Boys Her x-Linked Disorders

71
Q

Modes of inheritance

  • *X-linked recessive:** Sons of heterozygous mothers have a ___ chance of being affected. No ____-to-____
    transmission. Skips generations.
A

Modes of inheritance

  • *X-linked recessive:** Sons of heterozygous mothers have a 50% chance of being affected. No male-to-male
    transmission. Skips generations.
72
Q

Inheritance Pattern of:

Huntington disease

A

Inheritance Pattern

Huntington disease - Autosomal Dominant

73
Q

Modes of inheritance

X-linked recessive: Commonly more severe in males. Females usually must be _________ to be affected.

A

Modes of inheritance

X-linked recessive: Commonly more severe in males. Females usually must be homozygous to be affected.

74
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Uniparental disomy

A

Genetics - First Aid 2019

Example(s) for -​ Uniparental disomy

Consider UPD in an individual manifesting a recessive
disorder when only one parent is a carrier.
Examples: Prader-Willi and Angelman
syndromes.

75
Q

Disorders of imprinting

AngelMan syndrome - Signs and Symptoms

A

Disorders of imprinting

AngelMan syndrome: Results in inappropriate laughter (“happy puppet”), seizures, ataxia, and severe intellectual
disability.

76
Q

Disorders of imprinting

Prader-Willi syndrome:Signs and Symptoms

A

Disorders of imprinting

Prader-Willi syndrome: Results
in hyperphagia, obesity, intellectual disability,
hypogonadism, and hypotonia.

77
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Dominant negative mutation

A

Genetics - First Aid 2019

Example(s) for -​ Dominant negative mutation

Mutation of a transcription factor in its allosteric
site. Nonfunctioning mutant can still bind
DNA, preventing wild-type transcription factor
from binding.

78
Q

Genetic disorders by Chromosome

Neurofibromatosis type 2, DiGeorge syndrome

A

Genetic disorders by Chromosome

Neurofibromatosis type 2, DiGeorge syndrome (22q11)

Chromosome 22

79
Q

Inheritance Pattern of:

Neurofibromatosis type 1 (von
Recklinghausen disease) and type 2

A

Inheritance Pattern

Neurofibromatosis type 1 (von
Recklinghausen disease) and type 2 - Autosomal Dominant

80
Q

Modes of inheritance

Autosomal recessive: Higher risk in __________ families. Unaffected individual with affected sibling has
2/3 probability of being a carrier.

A

Modes of inheritance

Autosomal recessive: Higher risk in consanguineous families. Unaffected individual with affected sibling has
2/3 probability of being a carrier.

81
Q

Disorders of imprinting

AngelMan syndrome: Silent Gene

A

Disorders of imprinting

AngelMan syndrome: Silent Gene Paternally derived gene is silenced (imprinted). Disease occurs when the Maternal allele is deleted or mutated.

82
Q

Genetics - First Aid 2019

Genetic terms: Definition

Uniparental disomy - Heterodisomy Vs. IsodIsomy

A

Genetics - First Aid 2019

Definition: Heterodisomy Vs. Isodisomy

HeterodIsomy (heterozygous) indicates a meiosis I error. IsodIsomy (homozygous) indicates a meiosis II error or postzygotic chromosomal duplication of one of a pair of chromosomes, and loss of the other of the original pair.

83
Q

Modes of inheritance

Autosomal recessive: With 2 carrier (heterozygous) parents, on average: _ of children will be affected (homozygous), _ of children will be carriers, and _ of
children will be neither affected nor carriers.

A

Modes of inheritance

Autosomal recessive: With 2 carrier (heterozygous) parents, on average: ¼ of children will be affected (homozygous), ½ of children will be carriers, and ¼ of
children will be neither affected nor carriers.

84
Q

Modes of inheritance

What mode of Inheritance is presented here?

*Hint: Fathers transmit to all daughters

A

Modes of inheritance

X-linked dominant

85
Q

Modes of inheritance

What mode of Inheritance is presented here?

*Hint: All offspring of affected females may show signs of
disease.

A

Modes of inheritance

Mitochondrial Inheritance

86
Q

Inheritance Pattern of:

Lesch-Nyhan syndrome

A

Inheritance Pattern

Lesch-Nyhan syndrome - X-linked Recessive

Mneumonic: Obliviously Female Will Often Give Her Boys Her x-Linked Disorders

87
Q

Modes of inheritance

X-linked Dominant: Transmitted through both parents. Mothers transmit to 50% of daughters and sons; fathers
transmit to ___ daughters but no sons.

A

Modes of inheritance

X-linked Dominant: Transmitted through both parents. Mothers transmit to 50% of daughters and sons; fathers
transmit to all daughters but no sons.

88
Q

Genetics - First Aid 2019

Genetic terms: Definition

Heteroplasmy

A

Genetics - First Aid 2019

Definition: Heteroplasmy

Presence of both normal and mutated
mtDNA, resulting in variable expression in
mitochondrially inherited disease.

89
Q

Genetics - First Aid 2019

Genetic terms: Definition

Gonadal Mosaicism

A

Genetics - First Aid 2019

Definition: Gonadal Mosaicism

Presence of genetically distinct cell lines in the
same individual. In Gonadal mosaicism, the mutation is only in egg or sperm cells. If parents and relatives do not
have the disease, suspect gonadal (or germline) mosaicism.

90
Q

Genetic disorders by Chromosome

Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY)

A

Genetic disorders by Chromosome

Chromosome X

91
Q

Inheritance Pattern of:

Glycogen storage diseases

A

Inheritance Pattern

Glycogen storage diseases - Autosomal Recessive

92
Q

Modes of inheritance

Mitochondrial inheritance: Leber hereditary optic neuropathy

A

Modes of inheritance

Leber hereditary optic neuropathy - cell
death in optic nerve neurons → subacute
bilateral vision loss in teens/young adults, 90%
males. Usually permanent.

93
Q

Inheritance Pattern of:

Familial Hypercholesterolemia

A

Inheritance Pattern

Familial Hypercholesterolemia - Autosomal Dominant

94
Q

Inheritance Pattern of:

G6PD deficiency

A

Inheritance Pattern

G6PD deficiency - X-linked Recessive

Mneumonic: Obliviously Female Will Often Give Her Boys Her x-Linked Disorders

95
Q

Genetics - First Aid 2019

Genetic terms: Definition

Variable expressivity

A

Genetics - First Aid 2019

Definition: Variable expressivity

Patients with the same genotype have varying
phenotypes.

96
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Locus heterogeneity

A

Genetics - First Aid 2019

Example(s) for -​ Locus heterogeneity

Albinism.

97
Q

Genetic disorders by Chromosome

Friedreich ataxia, tuberous sclerosis (TSC1)

A

Genetic disorders by Chromosome

Friedreich ataxia, tuberous sclerosis (TSC1)

Chromosome 9

98
Q

Disorders of imprinting

Prader-Willi syndrome:Silent Gene

A

Disorders of imprinting

Prader-Willi syndrome:Silent Gene Maternally derived genes are silenced (imprinted). Disease occurs when the Paternal allele is deleted or mutated.

99
Q

Inheritance Pattern of:

Kartagener syndrome

A

Inheritance Pattern

Kartagener syndrome - Autosomal Recessive

100
Q

Genetic disorders by Chromosome

Patau syndrome, Wilson disease, retinoblastoma (RB1), BRCA2

A

Genetic disorders by Chromosome

Patau syndrome, Wilson disease, retinoblastoma (RB1), BRCA2

Chromosome 13

101
Q

Genetic disorders by Chromosome

Williams syndrome, Cystic fibrosis

A

Genetic disorders by Chromosome

Williams syndrome, Cystic fibrosis

Chromosome 7

102
Q

Inheritance Pattern of:

Myotonic Muscular Dystrophy

A

Inheritance Pattern

Myotonic Muscular Dystrophy - Autosomal Dominant

103
Q

Genetics - First Aid 2019

Genetic terms: Example(s) for -

Allelic heterogeneity

A

Genetics - First Aid 2019

Example(s) for -​ Allelic heterogeneity

β-thalassemia.

104
Q

Modes of inheritance

Autosomal recessive: Often due to ______ deficiencies. Usually seen in only 1 generation. Commonly more severe than dominant disorders; patients often present
in childhood.

A

Modes of inheritance

Autosomal recessive: Often due to enzyme deficiencies. Usually seen in only 1 generation. Commonly more severe than dominant disorders; patients often present
in childhood.

105
Q

Inheritance Pattern of:

Sphingolipidoses

A

Inheritance Pattern

Sphingolipidoses - Autosomal Recessive

(except Fabry disease)

106
Q

Inheritance Pattern of:

ADPKD

A

Inheritance Pattern

ADPKD - Autosomal Dominant

(Autosomal Dominant Polycystic Kidney Disease)

GBA Genetics (16 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions