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Biology Honors > Human Genetic Disorders > Flashcards

Human Genetic Disorders Flashcards

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1
Q

Huntington’s - Type of chromosome

A

short arm of chromosome 4

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2
Q

Huntington’s - Pattern of inheritance

A

autosomal dominant

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3
Q

Huntington’s - Group association

A

no group association

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4
Q

Huntington’s - Protein affected

A

normal function of protein: Signaling, transport, binding, protection
Plays a role in nerve cells
Found in many different tissues, highest in the brain
abnormal function: HD protein appears to accumulate in the nuclei of cells of the brain.

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5
Q

Huntington’s - Symptoms

A 
Onset of symptoms ~40y
Involuntary jerking movements
Trouble walking, speaking, swallowing
Personality changes
Decline in thinking, reasoning abilities
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6
Q

Huntington’s - Detection

A

In Adults: Based Upon Physical Symptoms and family history
DNA sequencing of the HTT gene
Prenatal: Amniocentesis (or Chorioninc villi sampling), to obtain fetal cells and gene sequencing

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7
Q

Huntington’s - Treatment

A

Drugs that interfere with HD protein
Preventative Measures:
Genetic Counseling
Genetic Screening

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8
Q

Huntington’s - Type of mutation

A

tri-nucleotide CAG repeats

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9
Q

Huntington’s - Gene

A

HTT

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10
Q

Sickle Cell - Type of chromosome

A

short arm of chromosome 11

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11
Q

Sickle Cell - Pattern of inheritance

A

autosomal incomplete dominance

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12
Q

Sickle Cell - Group association

A

people of decendants of people from parts of the world such as sub-saharan Afroca

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13
Q

Sickle Cell - Protein affected

A

hemoglobin

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14
Q

Sickle Cell - Symptoms

A

breakdown of red blood cells, clumping of cells and clogging of small blood vessels, accumulation in spleen

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15
Q

Sickle Cell - Detection

A

Sickledex test - blood sample mixed with deoxygenating chemical and look for change in cell shape (25%)
Protein Gel electrophoresis - normal and sickle hemoglobin protein migrate at different rates
Can distinguish between homozygous and heterozygous

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16
Q

Sickle Cell- Treatment

A

Transfusion therapy (RBC lifespan: 100-120 days)
Bone marrow transplants
Very few drugs exist
Most treatment is to alleviate symptoms

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17
Q

Sickle Cell- Gene

A

beta hemoglobin - Hbb

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18
Q

Cystic Fibrosis - Type of chromosome

A

long arm of chromosome 7

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19
Q

Cystic Fibrosis - Pattern of inheritance

A

autosomal recessive

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20
Q

Cystic Fibrosis - Group association

A

Europeans and Ashkenazi Jews

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21
Q

Cystic Fibrosis - Protein affected

A

normal fuction: Regulates the viscosity of mucus (slippery substance that lubricates and protects cellular surfaces).
Transmembrane chloride ion channel protein that regulates the movement of water out of the cell.
Regulates the fluid consistency of mucus.
abnormal fuction :Most common mutation causes misfolding and subsequent degradation of the transmembrane protein.`

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22
Q

Cystic Fibrosis - Symptoms

A

Mucus is thick and abnormally sticky.
Obstruction of airways and other ducts that are lined with mucus.
Prone to frequent respiratory infections that result in a buildup of scar tissue.
Affects digestive and reproductive systems as well.`

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23
Q

Cystic Fibrosis - Detection

A

Sweat test-measures the amount of Na+ and Cl- - Excessive ion concentrations indicate faulty CFTR
Prenatal: Amniocentesis (or Chorionic villi sampling)
DNA sequencing of the CFTR gene

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24
Q

Cystic Fibrosis - Treatment

A

Chest physiotherapy
Modified diet
Antibiotics

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25
Q

Cystic Fibrosis - Gene

A

cystic fibrosis transmembrane-conductance receptor (CFTR)

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26
Q

Familial Hypercholesterolemia - Type of chromosome

A

short arm of chromosome 19

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27
Q

Familial Hypercholesterolemia - Pattern of inheritance

A

autosomal incomplete dominance

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28
Q

Familial Hypercholesterolemia - Group association

A

no group association

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29
Q

Familial Hypercholesterolemia - Protein affected

A

normal fuction: Regulates the amount of cholesterol in the blood
Cell surface receptor that binds LDL
LDL binds to cholesterol
Receptor transports LDL/cholesterol into the cell
LDL releases cholesterol and cholesterol is broken down
Receptor is cycled back to the plasma membrane
abnormal fuction: Receptor protein is degraded and does not cycle back to the membrane

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30
Q

Familial Hypercholesterolemia - Symptoms

A

Increased risk of early heart disease
Abnormal deposits of cholesterol in tissues such as arteries
Increased risk of heart attack

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31
Q

Familial Hypercholesterolemia - Detection

A

Family history combined with clinical diagnosis

Genetic testing

32
Q

Familial Hypercholesterolemia - Treatment

A

Statin drugs such as Lipitor

Dietary modification

33
Q

Familia Hypercholesterolemia - Type of mutation

A

more than 1,000 documented

34
Q

Familial Hypercholesterolemia - Gene

A

low density lipoprotein receptor (LDLR)

35
Q

Phenylketonurea - Type of chromosome

A

long arm of chromosome 12

36
Q

Phenylketonurea - Patterin of inheritance

A

autsomal recessive

37
Q

Phenylketonurea - Group association

A

no group association

38
Q

Phenylketonurea - Protein affected

A

normal fuction : Phenylalanine hydroxylase is an enzyme that converts phenylalanine to tyrosine
Tyrosine is essential for the production of certain hormones, neurotransmitters and pigment (melanin)
abnormal fuction:Enzyme in the first step in the metabolic pathway is non-functional
Phenylalanine levels increase tyrosine levels are low

39
Q

Phenylketonurea - Symptoms

A

Mousy odor to the urine
Excess phenylalanine in the blood
Lighter skin and hair (lower tyrosine leads to less melanin)
Heart problems
Left untreated will lead to mental retardation

40
Q

Phenylketonurea - Detection

A

Newborn blood sample tested for high levels of phenylalanine

Can be confirmed with genetic testing

41
Q

Phenylketonurea - Treatment

A

Protein restriction in the diet

42
Q

Phenylketonurea - Gene

A

Phenylaline hydroxylase (PAH)

43
Q

Phenylketonurea - Type of mutation

A

substitution(missense)- Arg408Trp

44
Q

Albinism - Type of chromosome

A

long arm of chromosome 11

45
Q

Albinism - Pattern of inheritance

A

autosomal recessive

46
Q

Albinism - Group association

A

no group association

47
Q

Albinism - Protein affected

A

normal fuction: first step in the biosynthetic pathway converting tyrosine to melanin
abnormal fuction: Block in the first step in the melanin biosynthetic pathway

48
Q

Albinism - Symptoms

A

complete lack of pigment melanin in body tissues including skin, hair, and eyes

49
Q

Albinism - Detection

A

visual examination

genetic testing

50
Q

Albinism - Treatment

A

have to be careful in the sun - sunburn easily - must cover themselves
need to supplement vitamin D - not getting any from the sun exposure

51
Q

Albinism - Type of mutation

A

many

52
Q

Albinism - Gene

A

Tyrosinase (TYR)

53
Q

Tay Sachs - Type of chromosome

A

long arm of chromosome 15

54
Q

Tay Sachs - Pattern of inheritance

A

autosomal recessive

55
Q

Tay Sachs - Group association

A

Ashkenazi Jews

56
Q

Tay Sachs - Protein affected

A

normal function: Hexosaminidase A (found in lysosomes) catalyzes the biodegradation of fatty acid derivatives known as gangliosides found in the cells of the nervous system.
abnormal function: Gangliosides are made and biodegraded rapidly in early life as the brain develops.
When HexA is no longer functioning properly, the lipids accumulate in the brain and interfere with normal biological processes.
Accumulation of gangliosides in the nerve cells causes eventual cell death.

57
Q

Tay Sachs - Symptoms

A 
Motor weakness by 3-5 months
Dulling of response to external stimuli
Exaggerated startle response
Regression of motor skills 6-10 months
Loss of visual attentiveness 
Seizures 8-10 months
Progresses to a unresponsive vegetative state followed by death
58
Q

Tay Sachs - Detection

A

Prenatal biochemical testing of chorionic villi sample

Gene sequencing

59
Q

Tay Sachs - Treatment

A

No current treatment
Diagnosis blood test for HexA activity
Genetic counseling
Pre-implantation testing

60
Q

Tay Sachs - Type of mutation

A

Occurs in over 80% of Tay-Sachs patients
four base pair addition (TATC) in exon 11 of the Hex A gene
insertion leads to an early stop codon, which causes the Hex A deficiency

61
Q

Tay Sachs - Gene

A

Hexosaminidase (HexA)

62
Q

Hemophilia - Type of chromosome

A

X chromosome

63
Q

Hemophilia - Pattern of inheritance

A

Sex-linked

64
Q

Hemophilia - Group association

A

males

65
Q

Hemophilia - Protein affected

A

The abnormal version of the protein that is produced can no longer interact with Coagulation factor IX
OR
The protein is not made at all depending on the type of mutation and the results on the protein.

66
Q

Hemophilia - Symptoms

A

Excessive bleeding

67
Q

Hemophilia - Detection

A

Blood test for the presence of clotting factors

Genetic testing

68
Q

Hemophilia - Treatment

A

Blood transfusion
Clotting factor injections
Gene therapy (new)

69
Q

Hemophilia - Type of mutation

A

many although most common is an inversion of a large segment of the gene

70
Q

Hemophilia - Gene

A

coagulation factor VIII (F8)

71
Q

Achondroplasia - Type of chromosome

A

short arm of chromosome 4

72
Q

Achondroplasia - Pattern of inheritance

A

autosomal dominant

73
Q

Achondroplasia - Group association

A

no group association

74
Q

Achondroplasia - Symptoms

A

a short stature that’s significantly below average for age and sex
short arms and legs, especially the upper arms and thighs, in comparison to body height
short fingers in which the ring and middle fingers may also point away from each other
a disproportionately large head compared to the body
an abnormally large, prominent forehead
an underdeveloped area of the face between the forehead and upper jaw

75
Q

Achondroplasia - Type of mutation

A

missense substitution GLY380ARG

76
Q

Achondroplasia - Gene

A

fibroblast growth factor receptor 3 (FGFR3)

Biology Honors (1 decks)

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