Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Semester 1 > Patho Exam 2 > Flashcards

Patho Exam 2 Flashcards

1
Q

Penetrance

A

The precentage of individuals with the specific genotype who also exibit the expected phenotype.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Expressivity

A

The extent of variation in phenotype associated with a particular genotype. Ex) Neurofibromatosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Proband

A

The first member of the family to be diagnosed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Euploid

A

Cells that have a multiple of 23 chromosomes. Most normal somatic cells are euploid.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Haploid

A

Gametes contain only one half of each chromosome pair, giving them a total of 23 chromosomes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Diploid

A

All 46 chromosomes occur in pairs meaning that there are 23 pairs in each somatic cell.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Polyploigy

A

A cell which has more than 46 chromosomes. Some liver, bronchial and epoithelial cells are normally polyploidy. Must contain a multiple of 23 chromosomes. Eg 46 nor 93

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Aneuploidy

A

Cells that do not contain a multiple of 23 chromosomes, usually the result of NONDISJUNCTION. Ex. Trisomy or Momosomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Trisomy

A

Cells that contain three copies of one chromosome. Ex. Down Syndrome (Trisomy 21)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Partial trisomy

A

Only an extra portion of a chromosome is present in each cell. Consequences are less severe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Monosomy

A

Cells that contain one copy of a given chromosome. Monosomy of any cell is lethal.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Disjunction

A

When homolougus chromosomes separate normally during cellular devision.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Nondisjunction

A

When homologous chromosomes or sister chromatids fail to separate normally during either meiosis or meitosis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Chromosomal mosaics

A

Individuals who have Trisomies occuring in some cells but not others. Occurs when nondisjunction occurs in one embryotic and not the others.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Composition of chromatin

A

Deoxyribose, bases and phosphate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Function of DNA polymerase

A

Adds bases to the growing 3’ of a DNA molecule during replicaion. “DNA Builds”:

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Function of RNA polymerase

A

Pulls a portion of the DNA appart during transcription.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Autosomal Recessive characteristics of pedigree

A

Disease skips generations, is found in siblings, is eausal to both males and females.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Autosomal Dominant characteristics of pedigree

A

Disease is found in every genertion, effects nearly 50% of offspring, and is equal in males and females.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What are the two important sites on tRNA

A

The anticodon and the amino acid binding site.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Polyploidy occurs norally in which tissues

A

The Liver, Bronchial tissue and Epithelial cells.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Anuploidy occurs most frequently on which chromosomes?

A

13, 18 and 21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Fragile X Syndrome

A

A Trinucleotide dissorder where the CGG codon on the X chromosome is repeated nearly 200 times. It is the most prominent cause of MR. More common in males than females. Manifested by MR, Speech alterations, increased head circumfrence and joint hyperflexibility.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Robertson translocation

A

When the long arms of two chromosomes fuse at the centomere creating one large chromosome. The short arms fall away and there is no loss of genetic material. The carrier will have no phenotype however the offspring may be affected. It is limited to chromosomes 13, 14, 15, 21 and 22.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Down Syndrome

A

Cuaused by trisomy 21. Occurs in 1:800 live births. Low IQ, Distinct facial features, short stature, poor muscle tone, predisposition to heart murmers, lukemia and alzheimers.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Turner syndrome

A

Caused by a having only a single X chromosome. Affects only women. Characterized by short stature, female genitalia abnormalities, webbed neck, shield like chest, underdeveloped breasts and imperfectly developed ovaries

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Klinefelter syndrome

A

Caused by having atleast two X chromosomes and a Y. Chatracterized by having a male appearance, usually sterile, breast development, long limbs, tall stature and small testes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Cri du chat syndrome

A

Caused by the deletion of part of the short arm of chromosome 5. Characterized by “cry of the cat” distinctive cry, low birth weight, severe mental retardation, small head size, heart defects, distict facial appearance.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Huntington disease

A

An autosomal dominant disease. Charcterized by progressive dementia and uncontrolled movements of the limb. (Huntingto’s Chorea “Greek for dance”)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Cystic fibrosis

A

An autosomal recessive disease found in 1:2500 white births. Causes the formation of chloride channels leading to dehydration and thick secretions.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Neurofibromatosis

A

A.K.A. Von Recklinghausen disease. Abnormal tumor supression gene. Characterization varies widely from cafe‚ au lait spots, malignant tumors, scholiosis, seizures, gliomas, hypertension, learning disabilities and neuromas.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Hemophilia

A

An X linked recessive dissorder which impairs blood clotting.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Duchenne muscular dystrophy

A

X linked recessive disease. Caused by deleted portions of the DMD gene due to frameshift mutations. Characterized by progressive muscle deterioration, death caused by cardiac and respiratory failure.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Progeny

A

Offspring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Chromosomes

A

A single linear DNA sequence that is folded into a compact structure.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

Gene

A

A segment of DNA sequence that codes for the synthesis of a singal protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Allele

A

An alternative form of a gene in a specific location on a specific chromosome

38
Q

Gamete

A

Sperm and egg cells

39
Q

Homozygous

A

When the two gene pairs are identical at a locus.

40
Q

Heterozygous

A

When the two gene pairs are different at a locus.

41
Q

Dominant traits

A

The gene who’s effects are observable.

42
Q

Recessive traits

A

The gene who’s effects are hidden.

43
Q

Pedigree chart

A

A tool in the analysis of inheritance. It summarizes the family relationships and shows which members are affected by a genetic disease.

44
Q

Polygenic Inheritance

A

Assumes multiple genes cause the disease but no environmental factors.

45
Q

Relative Risk

A

Compare the risk of contracting a disease by people with the risk factor to those who do not have the risk factor. Ex) British physicians and lung cancer from smoking IR Risk Factor/ IR Non Risk Factor = Relative Risk

46
Q

Threshold of Liability

A

The point at which environmental factors tip the scale and a person develops a disease.

47
Q

Recurrence Risk

A

The likelihood that a trait or disorder present in one family member will occur again in other family members in the same or subsequent generations

48
Q

Empiric Risk

A

Calculated over a large population. Populations can be matched to the patients own

  • Socioeconomic class
  • Ethnicity
  • Geographic location
  • Lifestyle
  • Must be interpreted as an average estimate rather that a precise probability
49
Q

Incidence Rate

A

The number of new cases of a disease reported during a specific timeframe. Ex If there are 1,000 non diseased people and 30 people contract the disease over 3 years then the incidence rate is 10 cases/ 1000 person year

50
Q

Prevalence Rate

A

The proportion of the population affected by the disease at a given time. It is both new and old cases. Ex) HIV the incidence rate is high in Africa however people are living for a long time with the disease, so PR is up.

51
Q

Genetic factors of Coronary Artery Disease

A
  • There are more affected relatives.
  • Affected relatives are female rather than male.
  • Age of onset younger than 55 years.
  • 2-7 times more likely to have heart disease in individual with positive family history.
52
Q

Familial Hypercholesterolemia

A

Autosomal dominant disease that does not spare any racial or ethnic groups. It is a single gene disorder on the LDL receptor gene. Reduces the number of available LDL receptors which limits LDL absorption and increases serum LDL levels

53
Q

LDL Receptor Mutations Class 1

A

Heterozygous produce only ½ of LDL receptors

54
Q

LDL Receptor Mutations Class 2

A

Production of altered LDL receptor

55
Q

LDL Receptor Mutations Class 3

A

LDL receptor cannot bind to LDL

56
Q

LDL Receptor Mutations Class 4

A

Receptors do not migrate to clarathin coated pits

57
Q

LDL Receptor Mutations Class 5

A

Receptor cannot dissociate from LDL

58
Q

Mutation of ACE gene which commonly causes Essential HTN

A

A deletion or insertion of intron 16

59
Q

Alpha Adducin

A

Research topic for HTN. Involved in regulating sodium reabsorption in the proximal tubule

60
Q

BRCA 1

A
  • Chromosome 17
  • Tumor suppressor gene.
  • Transcription and DNA repair.
  • BRCA1 mutations can increase the risk of ovarian cancer among women (20-50% life-time risk
61
Q

BRCA 2

A
  • Chromosome 13
  • Tumor suppressor gene.
  • BRCA2 mutations also confer an increased risk of ovarian cancer (10-20% life-time prevalence).
  • 6% males who have mutant BRCA2 develop breast cancer.
  • Moderate increased risk of prostate cancers.
    • Is a 100% increase in risk over the general male population.
62
Q

Familial Adenomatous Polyposis

A
  • Caused by inactivation of Adenomatous Polyposis Coli
    • APC is on chromosome 5
    • APC is a tumor suppressor gene
    • They effect cell adhesion and transcription factors
63
Q

Hereditary Non polyposis Colorectal Cancer

A
  • Caused by mutations of 6 genes
    • Cause a decrease in DNA repair
    • Cause an increase in onca genes
64
Q

BMI Formula

A

BMI = KG/ Meters Squared

65
Q

APC

A

Adenomatous Polyposis Coli

- Mutation on Chromosome 5

66
Q

DCC

A

Deleted in Colon Cancer

- Deleted on Chromosome 18

67
Q

Likelihood of a parent passing DM 1 to child

A

2%-3%

68
Q

Likelihood of a sibling of a person with DM 1 having it

A

7%

69
Q

likelihood of developing DM 1 with a positive father

A

6% by age 20

70
Q

Likelihood of developing DM 1 with a positive mother

A

1% by age 20

71
Q

Is type 1 Diabetes 100% concordant in identical twins

A

No

72
Q

What are the two hits of intervention in type 1 Diabetes?

A

1st hit infection

2nd hit selection of the self-reactive T cells

73
Q

Major antigens increasing the risk of Diabetes 1

A

DR3 and DR4. Expressed in 95% of white parents with DM 1 and only 50% of the general population

74
Q

What percentage of offspring of DM 2 parents will develop it compared to the general population

A

38% of the offspring of DM2 and 11% of general pop

75
Q

Concordance of DM2 in MZ twins after age 50

A

> 90%

76
Q

Pima Indians in AZ

A

50% have DM2 and Calpain 10 is the susceptibility gene which has been identified

77
Q

Obesity BMI level

A

> 30 kg/ M^2

78
Q

Genes linked to obesity

A

Leptin
Neuropeptide Y
Melanacortin-4 receptor

79
Q

PS1 Gene

A

Contributing gene to familial Alzheimer’s. Located on chromosome 14. Disrupts Ca++ regulation in the mitochondria. Causing an increase in apoptosis

80
Q

PS2 gene

A

Contributes to familial Alzheimer’s. Located on chromosome 1. 80% homology to the PS1 gene.

81
Q

APP

A

Amyloid-beta Precursor Protein. Pt’s with Alzheimer’s show an increase in mRNA which codes for APP causing an increase in neuritic plaque.

82
Q

APOE

A

Apolipoprotein E which is located on Chromosome 19. Show a large increase of the likelihood of developing Alzheimer’s Disease

83
Q

Concordance rate for alcoholism in MZ twins

A

> 60%

84
Q

Structural abnormalities of pt’s with schizophrenia

A
  • Loss of grey matter
  • Ventricular enlargement
  • Decreased volume
85
Q

Likelihood of offspring developing Schizophrenia with affected parents

A

13% if one parent is affected and 48% if both parents are affected

86
Q

Susceptibility genes for schizophrenia

A
  • DTNBP1 on chromosome 6 it produces a protein called dysbinden
  • NRG1 on chromosome 8 produces neuroregulin which makes neurotransmitter receptors
87
Q

Concordance rates for twins with schizophrenia

A

MZ 48%

DZ 17%

88
Q

likelihood of parents passing bipolar onto children

A

50%

89
Q

First degree relatives of a bipolar person are how many times more likely to develop it

A

7 times more likely

90
Q

Gene associated with Bipolar disorder

A

Dopamine D4 receptor gene on chromosome 11

Semester 1 (15 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions