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MOD > Genetic Disorders - Basics > Flashcards

Genetic Disorders - Basics Flashcards

1
Q

What are 3 categories of human genetic disorders?

A
  1. Single gene mutation - Mendelian disorders
  2. Chromosomal Disorders
  3. Complex Multigenic Disorders
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2
Q

What are the 3 categories of human genetic disorders?

A
  1. Single gene mutation - Mendelian disorders
  2. Chromosomal Disorders
  3. Complex Multigenic Disorders
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3
Q

Single gene mutations are common or uncommon and what type of penetrance do they have?

A

UNcommon

High penetrance

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4
Q

Chromosomal Disorders are common or uncommon and what type of penetrance do they have?

A

UNcommon

High penetrance

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5
Q

Complex Multigenic Disorders are common or uncommon and what type of penetrance do they have?

A

COMMON

LOW penetrance

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6
Q

What are Complex Multigenic Disorders?

A

Environment and multiple gene variants that interact

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7
Q

Is a single gene sufficient to produce disease with complex multigenic disorders?

A

No - need multiple and environmental factors

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8
Q

Permanent change in DNA

A

Mutation

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9
Q

Point mutation within a coding sequence changes?

A

A single base

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10
Q

What are the 2 types of point mutations and what do they do?

A

Missense - alters meaning of protein

Nonsense - stop codon

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11
Q

Point mutations with NON-coding sequences can be found where?

A

Promoter/enhancer sequences

Defective splicing

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12
Q

Point mutations with NON-coding sequences fail to form?

A

mRNA - no translation

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13
Q

If a deletion or insertion is a multiple of____ it will be an abnormal protein

A

multiple of 3

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14
Q

If a deletion or insertion is NOT a multiple of 3 it will be a ______ mutation

A

Frameshift mutation

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15
Q

What is a Trinucleotide repeat?

A

Amplification of a sequence of 3 nucleotides

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16
Q

Trinucleotide repeats are usually which bases?

A

C and G

Cytosine and Guanine

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17
Q

Common thing that happens with Trinucleotide repeats?

A

Anticipation

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18
Q

What is Anticipation?

A
  • Seen with Trinucleotide repeats

= Genetic disorders passed on to next generation and symptoms become apparent earlier and are more severe

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19
Q

Genetic disorders become apparent at an earlier age with each generation and are more severe

A

Anticipation

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20
Q

Codominance

A

Both alleles contribute to phenotype

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21
Q

Pleiotropism

A

Single mutant gene creates many end effects

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22
Q

Genetic heterogeneity

A

Mutations at several loci may produce the same trait

23
Q

2 Autosomal Dominant disorders that affect the nervous system?

A

Huntington Disease

Neurofibromatosis

24
Q

3 Autosomal Dominant disorders that affect the skeletal system?

A

Marfan Syndrome
Ehler-Danlos Syndrome
Osteogenesis Imperfecta

25
Q

1 Autosomal Dominant disorder that affects the metabolic system?

A

Familial Hypercholesterolemia

26
Q

Familial Hypercholesterolemia has a _____ mutation

A

Loss of function

27
Q

Huntington Disease has a _____ mutation

A

Gain of function

28
Q

For Autosomal Dominant Disorders, is a parent usually affected and how many kids are usually affected?

A

Yes a parent is usually affected

50% of kids

29
Q

For Autosomal Dominant Disorders, when do new mutations occur?

A

In germ cells of older fathers

– Unless disease decreases reproductive fitness then there will be new mutations

30
Q

Incomplete pentrance

A

Mutation is present but normal phenotype

31
Q

Variable expressivity

A

Trait is present but expressed differently

32
Q

2 patterns of disease for Autosomal Dominant disorders?

A
  1. Regulation of metabolic pathways

2. Key structural proteins

33
Q

Autosomal Dominant and Recessive - expressivity?

A

Dominant - variable expressivity

Recessive - uniform

34
Q

Autosomal Dominant and Recessive - penetrance?

A

Dominant - incomplete penetrance

Recessive - complete penetrance

35
Q

Autosomal Dominant and Recessive - age of onset?

A

Dominant - LATER

Recessive - EARLY

36
Q

Autosomal Dominant and Recessive - new mutations?

A

Dominant - possible

Recessive - rare

37
Q

What are almost all of Autosomal Recessive Disorders?

A

Inborn Errors of Metabolism

38
Q

What is the inheritance of Cystic Fibrosis and Phenylketonuria?

A

Autosomal Recessive

– IEM

39
Q

What chromosome has the mutation for Cystic Fibrosis?

A

7q31.2

40
Q

What is the most common lethal genetic disease of caucasions?

A

Cystic Fibrosis

41
Q

Do heterozygotes for cystic fibrosis have any symptoms?

A

They show an increased incidence of respiratory and pancreatic disease

42
Q

Can other genes besides the CFTR gene manifest symptoms?

A

Yes - organ specific

43
Q

Meconium ileus, male infertility, pancreas and lung disease is probably?

A

Cystic Fibrosis

44
Q

What population is usually affected with phenylketonuria?

A

Scandinavian descent Caucasians

45
Q

Phenylketonuria has a defect in? What reaction does not take place?

A

Defect in Phenylalanine Hydroxylase
- Cannot convert Phenylalanine to Tyrosine
(- Or Tyrosine to Melanin since there is no tyrosine!)

46
Q

Symptoms of Phenylketonuria?

A

Hypopigmentation, intellectual disability and a musty/mousy odor to urine and sweat

47
Q

With Autosomal Recessive disorders is a parent usually affects and what percentage of kids are likely to be affected?

A

NO parent is usually affected

- 25% of kids

48
Q

If a mutation has low frequency it is likely due to?

A

Consanguineous marriage

49
Q

X-linked Recessive Blood disorder?

A

Glucose - 6 - phosphate dehydrogenase deficiency

50
Q

X-linked Recessive Nervous system disorder?

A

Fragile X Syndrome

51
Q

X-linked recessive disorders affect who?

A

MALES

52
Q

Daughters of affected males with X-linked recessive disorders are?

A

CARRIERS

53
Q

With mitochondrial inheritance, affected females cause how many children to be affected?

A

ALL OF THEM

54
Q

With mitochondrial inheritance, affected males cause how many children to be affected?

A

NONE

MOD (68 decks)

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