Genetic diseases Flashcards Preview

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Flashcards in Genetic diseases Deck (25)
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1
Q

What is a unifactorial disease

A

Defect in a single gene gives rise to disease phenotype (point mutations, insertions, deletions…)

2
Q

Copper toxicosis is an example of what pattern of inheritance

A

autosomal recessive

3
Q

What is usually the most detrimental type of genetic defect

A

frame shift

4
Q

Pattern of inheritance depends on what 3 things

A
  1. Chromosome involved 2. Whether other genes may fully or partially complement the defect 3.Whether defect requires environmental input to see phenotype
5
Q

Hyperkalemic periodic paralysis (HYPP) is an example of what pattern of inheritance

A

Autosomal dominant

6
Q

What does a circle with a dot on the inside represent on a pedigree

A

Hterozygous X-linked disease

7
Q

what does a nonsense mutation do

A

encodes a stop codon

8
Q

What does a missense mutation do

A

encode a different amino acid

9
Q

What is synteny

A

Conservation of gene groupings and organization on the chromosome of different species

10
Q

What is autosomal dominant inheritance

A

requires a single allele to cause phenotype

11
Q

If you see a filled in/dark circle on a pedigree, what does it represent

A

Affected female

12
Q

What is autosomal recessive inheritance

A

requires individual be homozygous for defective allele to see phenotype

13
Q

What is penetrance

A

Portion of individuals heterozygous for a given dominant allele or homozygous for a given recessive allele which expresses phenotype

14
Q

what is a genetic disease

A

Heritable genetic alteration from wild type. Decreased viability

15
Q

An expectation of a change in phenotype from one generation to the next

A

Anticipation

16
Q

What is a subset of a unifactorial disease that may be in several genes, any one of which gives rise to the same disease phenotype

A

polygenic disease

17
Q

trinucleotide repeat diseases are an example of what type of genetic defect

A

Deletion or duplication

18
Q

What is sex-linked inheritance

A

Often requires only a single defective allele

19
Q

Point mutations affecting transcript spicing may result in non-functional products, what is a common disease this causes

A

Duchenne muscular dystrophy or canine narcolepsy

20
Q

What type of genetic disease is rod-cone dysplasia type 1

A

Unifactoral

21
Q

What is the basis of PCR

A

Create amplified nucleic acids of intrest

22
Q

Can plot phenotypes over multiple generations to determine patterns of inheritance

A

pedigree

23
Q

Alcoholism is and example of what type of genetic disease

A

multi-factorial

24
Q

What is a multi-factorial disease

A

Disease that involves multiple different genes and usually an environmental insult

25
Q

What is a mutation

A

Permanent change of the genetic material of the chormosomes