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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
What happens if a deletion or an insertion does NOT occur in a multiple of 3?
Alteration in reading frame = Frameshift Mutation
26
What is a trinucleotide repeat and what do they contain?
Amplification of a sequence of 3 nucleotides Nearly all contain Guanine and Cytosine
27
What diseases are examples of Trinucleotide Repeats?
Huntingtons Disease Myotonic Dystrophy
28
What is Anticipation in relation to genetic disorders?
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
What type of deletion or insertion is occuring with Cystic Fibrosis?
3 Base Deletion Reading frame is intact (no frame shift) Loss of phenylalanine in translated protein
30
What type of deletion or insertion is occuring with ABO (bloodtype)?
One base Deletion Frame shift mutation responsible for the O allele Occurs at ABO (glycosyltransferase) locus
31
What type of deletion or insertion is occuring with Tay-Sachs Disease?
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
What is Codominance?
When both alleles contribute to phenotype
33
What is pleiotropism?
A single mutant gene affects multiple functional regions
34
What is genetic heterogeneity?
Mutations at several loci may produce the same trait
35
For autosomal Dominant disorders, new mutations seem to occur in germ cells of ________
Relatively Older Fathers
36
What is incomplete penetrance?
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
What is variable expressivity?
When individuals carrying a mutant gene, but the gene is expressed differently among individuals
38
What is an example of a loss-of-function mutation?
Familial Hypercholesterolemia Loss-of-function mutations are defined as a mutation that causes a protein to become unable to perform is function
39
What is an example of a gain-of-function mutation?
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
What are the two main patterns of disease with Autosomal Dominant disorders?
Regulation of Complex Metabolic Pathways Key structural proteins: collagen and cytoskeletal elements of RBC membrane
41
What is an example of an Autosomal Dominant disorder that demonstrates Regualtion of Complex Metabolic Pathways pattern of disorder?
LDL Receptors in Familial Hypercholsterolemia
42
What is an example of an Autosomal Dominant disorder that demonstrates the key structural protein compromise pattern of disorder?
Osteogenesis Imperfecta Marked by deficiency of collagen and severe skeletal abnormalities
43
How do autosomal dominant disorders keep getting passed on if they are so detrimental?
Age of onset is delayed in many of these conditions This allows genes to continue to get passed onto offspring
44
What are the major autosomal recessive disorders we discussed in lecture?
Cystic Fibrosis Phenylketonuria Neimann-Pick MPS (Hurler) Gaucher
45
What is Cystic Fibrosis?
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
What is Phenylketonuria?
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
What are the characteristics of Autosomal Recessive Disorders?
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
How can you differentiate autosomal dominanat vs autosomal recessive disorders?
Autosomal Recessive demonstrate: - Uniform expression - Complete penetrance - Onset is EARLY in life - Many mutations involve enzymes
49
What is the major bacteria associated with CF?
Pseudomonas aeruginosa
50
What are the major GI indications for CF?
Meconium Ileus (obstruction of first bowel movement Pancreatic insufficiency
51
What is the major manifestation of CF specifically in males?
Male Urogenital abnormalities Infertility
52
What are the criteria for diagnosis of cystic fibrosis?
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
What type of inheritance does Phenylketonuria (PKU) follow and What is the mechanism of Phenylketonuria?
Autosomal Recessive Deficiency in Phenylalanine Hydroxylase (PAH) which leads to HYPERPHENYLALANINEMIA
54
What is the typical profile of a patient with Phenylketonuria (PKU?
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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