Brainscape's Knowledge GenomeTM

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


See full index

General Pathology > Genetics > Flashcards

Genetics Flashcards

1
Q

The study of single or a few genes and their phenotypic effects

A

Genetics

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

The study of all the genes in the genome and their interactions

A

Genomics

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

How many % of the human genome encodes proteins?

A

<2%

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

How many percent represents blocks of repetitive DNA sequences whose functions remain mysterious?

A

> 50%

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

About 50% of spontaneous abortuses

A

Chromosomal abnormality

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

1% of all newborn infants

A

Gross chromosomal abnormality

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

Disorder related to mutations in single genes with large effects

A

Mendelian disorder

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

Mutation in single genes with large effects

A

High penetrance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q
  • Structural or numerical alteration in the autosomes and sex chromosomes
  • Uncommon but associated with high penetrance
A

Chromosomal disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q
  • More common
  • Interactions between multiple genes and environment
  • Small effect and is of low penetrance
  • Multifactorial disorders
A

Complex multigenic disorders

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

Variations in genes

A

Polymorphisms

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

Examples of multifactorial disorders in complex multigenic disorders

A
  • Atherosclerosis
  • Diabetes Mellitus
  • Hypertension
  • Autoimmune diseases
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Permanent change in the DNA

A

Mutation

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

Transmitted to progeny -> Inherited diseases

A

Germ Cell Mutations

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

Not inherited

A

Somatic Cell Mutation

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

Change in a single nucleotide base within a gene

A

Point mutations

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

Subtype of Point Mutations:
Altered DNA, codes for the same amino acid

A

Silent Mutation

18
Q

Subtype of Point Mutations:
Altered DNA, codes for different amino acid

A

Missense Mutation

19
Q

Example of Missense Mutation

A

Sickle Cell Anemia
GAG (glu) -> GTG (val)

20
Q

Subtype of Point Mutations:
Altered DNA, codes for a stop codon

A

Nonsense Mutation

21
Q

Examples of Nonsense Mutation

A
  • UAA
  • UGA
  • UAG
22
Q

Insertion or deletion of 1 or more nucleotides, shift the reading frame of the DNA strand

A

Frameshift Mutation

23
Q

If the number of base pairs involved is three or multiples of three, this type of mutation does not occur

A

Frameshift Mutation

24
Q

Amplification of a sequence of three nucleotides

A

Trinucleotide Repeat Mutation

25
Q

Increasing severity of clinical disease in each successive generation

A

Anticipation

26
Q

Having two different alleles for a single trait

A

Heterozygous

27
Q

Having identical alleles for a single trait

A

Homozygous

28
Q
  • Manifested in the heterogenous state (Aa)
  • At least 1 parent of an index case is usually affected
  • Both males and females are affected and both can transmit the condition
  • When an affected person marries an unaffected one every child has 2/4 chances of having the disease
  • Age at onset is delayed
A

Autosomal Dominant Disorders

29
Q

In autosomal dominant disorders, when an affected person marries an unaffected one every child has ______ chances of having the disease

A

2/4

30
Q

In autosomal dominant disorders, age at onset is _____

A

Delayed

31
Q
  • Largest category
  • Disease is expressed or as carriers
  • Trait does not usually affect the parents, but siblings may show the disease which have 1/4 chance of having the trait
  • Strong likelihood that affected individual (proband) is the product of consaguineous marriage
  • Onset is frequently early in life
  • Many mutated genes encode enzymes
  • Include almost all inborn errors of metabolism
A

Autosomal Recessive Disorders

32
Q

In autosomal recessive disorders, trait does not usually affect the parents, but siblings may show the disease which have _____ chance of having the trait

A

1/4

33
Q

In autosomal recessive disorders, strong likelihood that affected individual (proband) is the product of ______

A

Consaguineous marriage

34
Q

In autosomal recessive disorders, onset is frequently ____ in life

A

Early

35
Q

All sex-linked disorders are ______ and almost all are recessive

A

X-Linked

36
Q
  • Affected males does not transmit the disorder to his sons, but all daughters are carriers
  • Heterozygous female does not express full phenotypic change because of paired normal allele
  • Sons of heterozygous women have 50% of receiving the mutant gene
A

X-Linked Recessive Disorders

37
Q
  • Affected heterozygous female transmit to half her sons and half her daughters
  • Affected male parent transmit to all his daughters but none of his sons IF female parent is normal
A

X-Linked Dominant Disorders

38
Q

2 examples of x-linked dominant disorders

A
  • Alports syndrome
  • Vitamin D resistant rickets
39
Q

Mnemonic for autosomal dominant disorders

A

Very Powerful DOMINANT Humans
- Von willebrand disease/ Von hippel-lindau
- Pseudo-hypoparathyroidism
- Dystrophia myotonica
- Osteogenesis imperfecta/ Osler-weber-rendu
- Marfan syndrome
- Intermittent porphyria
- Neurofibromatosis
- Achondroplasia/ Adult polycystic kidney disease
- Noonan syndrome
- Tuberous sclerosis
- Hypercholesterolemia
- Huntington’s disease
- Hypertrophic obstructive cardiomyopathy
- Hereditary spherocytosis
- Hereditary non polyposis coli
- Hereditary hemorrhagic telangiectasia

40
Q

Examples of autosomal recessive conditions

A
  • Sickle cell disease
  • Cystic fibrosis
  • Batten disease
  • Congenital deafness
  • Phenylketonuria (PKU)
  • Spinal muscular atrophy
  • Recessive blindness
  • Maple syrup urine disease
41
Q

Mnemonic for x-linked recessive disorders

A

“Oblivious Female Will Give Her Boys Her X-Linked Disorders” - OFWGHBHLD
- Ocular albinism
- Fabry disease
- Wiskott-Aldrich syndrome
- G6PD deficiency
- Hunter syndrome
- Bruton agammaglobulinemia
- Hemophilia A/B
- Lesch-Nyhan syndrome
- Ducheene muscular dystrophy

General Pathology (3 decks)

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