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Genetics > Ch 22 Medical Genetics > Flashcards

Ch 22 Medical Genetics Flashcards

1
Q

What are human traits determined by?

A

Both genetics and the enviroment

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2
Q

Are diseases more likely in genetic relatives or in the general population?

A

Genetic relatives

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3
Q

What is a monozygote?

A

An identical twin

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4
Q

What is a dizygote?

A

A non identical twin

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5
Q

Is a disease more likely to occur in momzygotes or dizygotes?

A

Monozygotes

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6
Q

what is concordance?

A

The degree to which a disease is inherited. Calculated by dividing number of twins BOTH with disease over number of twins in which ONE has disease

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7
Q

What is the concordance in diseases that are only associated with a single gene in idnetical twins?

A

100%

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8
Q

What is concordance in dizygotic twins assuming one is HETEROYGOUS?

A

50%

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9
Q

What is concordance for recessive diseases in twins?

A

25% assuming both heterozygous

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10
Q

What are reasons that concordance would be lower than expected?

A

If incomplete penetrance occurs OR if one twin gets disease from mutation after fertilization

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11
Q

Examples of Autosomal Recessive Disorders

A

Ablinism, ADD, and Cystic Fibrosis, Tay Sachs disease

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12
Q

Characteristics of Recessive diseases

A

1) Affected offspring usually has two unaffected parents
2) two unaffected parents (heterozygotes) have 25% diseased children
3) Two affected individuals produce affected offspring

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13
Q

Does gender affect recessive disease frequency?

A

NO equal in both genders

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14
Q

Examples of Autosomal Dominant Disorders?

A

Huntingtons disease and Dwarfism

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15
Q

Characteristics of Huntigntons?

A

1) affected offspring have one or more affected parents

2) Homo more effected that hetero individual

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16
Q

Examples of Xlinked recessive diseases?

A

Hemophila A/B and muscular distrophy

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17
Q

What are biochemical Assays used for?

A

To determine the enzymatic function of certain proteins that effect diseases
Ex: Hex A (enyzme that causes tay sachs

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18
Q

What is Amniocentesis?

A

removal of amniotic fluid from embyo for karyotyping

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19
Q

What is chorionic villus sampling

A

removal of small pieces of chorian (placenta)that are analyzed. Can be done earlier but poses greater risk for miscarriage

20
Q

What is preimplantation genetic diagnosis?

A

Conducted before pregnancy in vitro. Genetic testing of embryo by removing one of the two cells at 8 cell stage. Called embryo biopsyor blastomere biopsy

21
Q

What is a prion? And who does it effect?

A

proteinaceous infectious particles that alter protein function post-translationally.
Causes nerodegenerative diseases in cows

22
Q

What do pRp proteins bind to?

A

Copper ions with high affinity

23
Q

What are the two prion conformations?

A

Normal PRPc and abnormal PRPsc

24
Q

How is the abnormal form of PRP attained?

A

By eating bad meat or by being infected by individual with PRPsc or by spontaneous transformation

25
Q

Why is PRPsc so bad?

A

Because the prescence of the abnormal PRP causes normal PRPc to convert to PRPsc

26
Q

Cancer caused by what?

A

Uncontrolled cell division

27
Q

Carinogen

A

Enviromental causes of cancers

28
Q

Characteristics of Cancer include?

A

1) usually originates in single cell
2) usually starts with benign growth
3) progresses to malignant over time
4) invasive and metastatic

29
Q

How can viruses cause cancer?

A

Carry viral oncogenes into the cell

30
Q

Transformation

A

Process of changing normal cell to malignant cell

31
Q

What are ACV’s?

A

Type of virus capable of transformation

32
Q

What is a gene that promotes cancer called?

A

An oncogene

33
Q

The normal cell cycle is regulated by what?

A

polypeptide hormones known as growth factors

34
Q

Proto Oncogene

A

Normal gene with capability of becoming oncogene

35
Q

How do proto oncogenes become oncogenes?

A

1) Amount of encoded protein greatly increased
2) protein structure altered resulting in overexpresion
3) Protein expressed in cell type where it is not normally expressed

36
Q

What is the RAS protein?

A

A GTPase that converts GTP to GDP+pi

37
Q

What is the effect of RAS becoming an oncogene?

A

1) decrease ability of RAS to transform GTP
2) Increase the rate of exchang of bound GDP for GTP
* BOth result in more bound GDP keeping signaling pathway turned ON and cell division increasing

38
Q

How to change proto oncogene to a full blown oncogene?

A

1) Missense mutation causes abnormal function
2) Amplification
3) Viral Integration
4) Chromosomal Translocation

39
Q

What do tumor supressor genes do?

A

prevent proliferation of cancer. If inactivated by mutation, chances of cancer increase

40
Q

What is p53 gene?

A

A tumor supressor gene that senses DNA damage

* 50% of cancers associated with mutation in this gene

41
Q

What are the three things p53 does?

A

1) repair cell damage
2) start apoptosiis of bad cells
3) arresting cell cycle

42
Q

How does apoptosis work?

A

protease called capspaces act as exuctioners of cells by digesting things like microtubles

43
Q

How is maintenance of the genome accomplished?

A

Checkpoint proteins and DNA repair proteins

44
Q

How do checkpoint proteins work?

A

prevent cell division when damaged DNA is detected

Prevent accumulation of cyclin CDK complexes that promote cell division

45
Q

What do G1 and G2 checkpoints do?

A

look for DNA damage and if found prevent formation of cyclin cdk complexes

46
Q

What does M checkpoint do?

A

sense if a chromosome is not attached to spindle correctly

Genetics (11 decks)

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