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Colin MOD > Genetic Disorders > Flashcards

Genetic Disorders Flashcards

1
Q

Which disease discussed are Autosomal Recessive?

A

Cystic Fibrosis

Phenylketonuria

Tay-Sachs disease

Niemann-Pick disease

Gaucher disease

Mucopolysaccharidoses (Except Hunter sydrome)

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2
Q

Which diseases discussed are Autosomal Dominant?

A

Marfan Syndrome

Ethlers-Danlos (can be Autosomal Recessive but we focus on the Autosomal Dominant types)

Familial Hypercholesterolemia

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3
Q

Which disease discussed are X-Linked Recessive?

A

Hunter syndrome

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4
Q

What inheritance pattern is Tay-Sachs disease?

A

Autosomal Recessive

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5
Q

What inheritance pattern is Gaucher Disease?

A

Autosomal Recessive

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6
Q

What inheritance pattern is Neimann-Pick Disease?

A

Autosomal Recessive

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7
Q

What inheritance pattern is Hunter Syndrome?

A

X-Linked Recessive

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8
Q

What inheritance pattern is Familial Hypercholsterolemia?

A

Autosomal Dominant

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9
Q

What inheritance pattern is Marfan Syndrome?

A

Autosomal Dominant

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10
Q

What inheritance pattern is Ehlers-Danlos?

A

Can be both, but we focus on Autosomal Dominant

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11
Q

What inheritance pattern is Cystic Fibrosis?

A

Autosomal Recessive

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12
Q

What inheritance pattern is Phenylketonuria?

A

Autosomal Recessive

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13
Q

What inheritance pattern is Mucopolysaccharidoses?

A

Autosomal Recessive

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14
Q

What are the three broad categories of human genetic disorders?

A

Single Gene mutation (aka Mendelian Disorders)

Chromosomal Disorders

Complex Multigene Disorders

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15
Q

What are Mendelian Disorders?

A

Single Gene mutations with LARGE effects

Rare, high penetrance

Sickel Cell Anemia: strong selective forces (malaria) maintain mutation in population

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16
Q

What are Chromosomal Disorders?

A

These arise from structural or numerical alteration in the autosomes and sex chromosomes.

Like monogenic disease they are uncommon but associated with HIGH penetrance (proportion of individuals carrying a gene variant that also express an associated trait)

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17
Q

What is a Complex Multigenic Disorders

A

These are FAR MORE COMMON than disease in chromosomal disorders and single gene mutation disorders

They are caused by interactions between multiple variant forms of genes and environmental factors

Such variations in genes are common within the population and are also called polymorphisms.

Each such variant gene confers a small increase in disease risk,and no single susceptibility gene is necessary or sufficient to produce the disease.

It is only when several such polymorphisms are present in an individual the disease occurs, hence the term multigenic or polygenic

Low Penetrance

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18
Q

What is a mutation?

A

Mutation is defined as a permanent change in the DNA

Mutations that affect GERM CELLs are transmitted to the progeny and can give rise to INHERITED DISEASES

Mutations that rise in SOMATIC CELLS understandably do not cause hereditary diseases but are important in the genesis of CANCERS and some CONGENITAL MALFORMATIONS

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19
Q

What are mutations that affect germ cells?

A

Mutations that affect GERM CELLS are transmitted to the progeny and can give rise to INHERITED DISEASES

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20
Q

What are mutations that affect somatic cells?

A

Mutations that rise in SOMATIC CELLS understandably do not cause hereditary diseases but are important in the genesis of CANCERS and CONGENITAL MALFORMATIONS

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21
Q

What is Missense?

A

Missense = Alter the meaning of a sequence of the encoded protein

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22
Q

What is nonsense?

A

Nonsense = Premature STOP CODON

23
Q

What are the 3 major transcription factors associated with NONCODING SEQUENCES?

A

MYC

JUN

p53

24
Q

What happens if 3 base pairs, or multiple of 3 occurs in a DNA strand?

A

Reading frame remains intact, however you get an abnormal protein

25
Q

What happens if a deletion or an insertion does NOT occur in a multiple of 3?

A

Alteration in reading frame = Frameshift Mutation

26
Q

What is a trinucleotide repeat and what do they contain?

A

Amplification of a sequence of 3 nucleotides

Nearly all contain Guanine and Cytosine

27
Q

What diseases are examples of Trinucleotide Repeats?

A

Huntingtons Disease

Myotonic Dystrophy

28
Q

What is Anticipation in relation to genetic disorders?

A

A genetic disorder is passed on to the next generation, the symptoms become apparent at an earlier age with each generation.

In most cases, an increase in severity of symptoms is also noted

29
Q

What type of deletion or insertion is occuring with Cystic Fibrosis?

A

3 Base Deletion

Reading frame is intact (no frame shift)

Loss of phenylalanine in translated protein

30
Q

What type of deletion or insertion is occuring with ABO (bloodtype)?

A

One base Deletion

Frame shift mutation responsible for the O allele

Occurs at ABO (glycosyltransferase) locus

31
Q

What type of deletion or insertion is occuring with Tay-Sachs Disease?

A

4 base Insertion in hexoSAMinidase A gene

Frameshift mutation

Ashkenazi Jews

“Sam” is Jewish

Has something missing from his Sach

I inserted myself into their group, bringing it to 4 people

32
Q

What is Codominance?

A

When both alleles contribute to phenotype

33
Q

What is pleiotropism?

A

A single mutant gene affects multiple functional regions

34
Q

What is genetic heterogeneity?

A

Mutations at several loci may produce the same trait

35
Q

For autosomal Dominant disorders, new mutations seem to occur in germ cells of ________

A

Relatively Older Fathers

36
Q

What is incomplete penetrance?

A

Penetrance is the ability of a mutation to produce a particular trait

50% penetrance means 50% of those who carry the gene express the trait

Incomplete penetrance is when some individuals inherit a mutant gene but are phenotypically normal

37
Q

What is variable expressivity?

A

When individuals carrying a mutant gene, but the gene is expressed differently among individuals

38
Q

What is an example of a loss-of-function mutation?

A

Familial Hypercholesterolemia

Loss-of-function mutations are defined as a mutation that causes a protein to become unable to perform is function

39
Q

What is an example of a gain-of-function mutation?

A

Huntingtons

  • Protein aggregates and forms an inclusion body in the nucleus
  • Toxic to neurons

Gain-of-function mutations are due to a protein becoming overactive or gaining a new improper function

40
Q

What are the two main patterns of disease with Autosomal Dominant disorders?

A

Regulation of Complex Metabolic Pathways

Key structural proteins: collagen and cytoskeletal elements of RBC membrane

41
Q

What is an example of an Autosomal Dominant disorder that demonstrates Regualtion of Complex Metabolic Pathways pattern of disorder?

A

LDL Receptors in Familial Hypercholsterolemia

42
Q

What is an example of an Autosomal Dominant disorder that demonstrates the key structural protein compromise pattern of disorder?

A

Osteogenesis Imperfecta

Marked by deficiency of collagen and severe skeletal abnormalities

43
Q

How do autosomal dominant disorders keep getting passed on if they are so detrimental?

A

Age of onset is delayed in many of these conditions

This allows genes to continue to get passed onto offspring

44
Q

What are the major autosomal recessive disorders we discussed in lecture?

A

Cystic Fibrosis

Phenylketonuria

Neimann-Pick

MPS (Hurler)

Gaucher

45
Q

What is Cystic Fibrosis?

A

Autosomal Recessive

Abnormal function of Epithelial Chloride channel

CFTR gene 7q 31.2

  • Daniell Tutor, boyfriend has CF
  • Shes tutored for 7 blocks
  • Shes kinda tricky, so instead of 3,2,1, she goes 31.2

1 in 2500

Most common lethal genetic disease that affects CAUCASIAN populations

One gene, one disease

46
Q

What is Phenylketonuria?

A

SCANDANAVIAN descent (AR)

Phenylalanine Hydroxylase (PAH) deifiency

  • Causes Hyperphenylalaninemia
  • Phenylalanine cannot become tyrosine
  • Tyrosine is a precurose for melanin, people with PKU are Light Skinner
  • 6 months after birth, sever mental retardation occurs
  • Musty Odor
47
Q

What are the characteristics of Autosomal Recessive Disorders?

A

Largest category of genetic disorders

Both Alleles are mutated

Trait usually does NOT affect parent

If mutation is low frequency in population, strong liklihood proband (affected individual) product of consanguineous marriage
- Marriage between two people closely related

48
Q

How can you differentiate autosomal dominanat vs autosomal recessive disorders?

A

Autosomal Recessive demonstrate:

  • Uniform expression
  • Complete penetrance
  • Onset is EARLY in life
  • Many mutations involve enzymes
49
Q

What is the major bacteria associated with CF?

A

Pseudomonas aeruginosa

50
Q

What are the major GI indications for CF?

A

Meconium Ileus (obstruction of first bowel movement

Pancreatic insufficiency

51
Q

What is the major manifestation of CF specifically in males?

A

Male Urogenital abnormalities

Infertility

52
Q

What are the criteria for diagnosis of cystic fibrosis?

A

One or more characteristic phenotypic features

OR a history of CF in a sibling

OR a positive newborn screening test

AND

Increased sweat chloride concentration on two or more occasions

53
Q

What type of inheritance does Phenylketonuria (PKU) follow

and

What is the mechanism of Phenylketonuria?

A

Autosomal Recessive

Deficiency in Phenylalanine Hydroxylase (PAH) which leads to HYPERPHENYLALANINEMIA

54
Q

What is the typical profile of a patient with Phenylketonuria (PKU?

A

Scandanavian

Light Skinned

6 mo severe mental retardation

Hypopigmentation

STRONG MUST OR MOUSY ODOR IN URINE AND SWEAT

Colin MOD (5 decks)

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