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Pathophysiology > Module 6 - Genetics > Flashcards

Module 6 - Genetics Flashcards

1
Q

The basic genetic information is stored in ______

A

Chromosomes

-Humans have 23 pairs (46)
22 pairs of autosomes and one pair of sex chromosomes

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2
Q

Human possess _____ genes

A

30,000

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3
Q

Pyrimidine bases

A

Thymine

Cytosine

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4
Q

Purine bases

A

Adenine

Guanine

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5
Q

The process by which gene expression is increased, usually promoted by some external influence

A

Induction

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6
Q

Is the process by which a regulatory gene reduces or prevents expression

A

Gene repression

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7
Q

______ are accidental rare errors in duplication of DNA. Result from the substitution of one base pair for another, the loss or addition of one or more base pairs, or rearrangements of base pairs

A

Mutations

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8
Q

Mutations that occur in germ cells (ovum or sperm) can be inherited but not those occurring in somatic cells

A

Inheritance of mutations

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9
Q

_______ is the genetic info stored in the base sequence triplet code

A

Genotype

In the genes

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10
Q

The _______ refers to the recognizable traits, physical or biochemical, associated with a specific genotype

A

Phenotype

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11
Q

________ refers to the manner in which the genes is expressed in the phenotype, which can range from mild to severe

A

Expressivity

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12
Q

_________ represents the ability of a gene to express its function; ability to express itself in a population that everyone has the genotype

A

Penetrance

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13
Q

Types of Inheritance

A

Polygenic

Multifactoral

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14
Q

_________ inheritance involves multiple genes at different loci, with each gene exerting a small additive effect in determining a trait

A

Polygenic

some eye colors, skin color

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15
Q

__________ inheritance is similar to polygenic inheritance in that multiple genes at different loci affect the outcome; however, envrionmental effects on the genes affect the outcome

A

Multifactorial

CAD
Height
Diabetes
Alcoholism

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16
Q

The position of the gene on the chromosome is called its ____ and alternate forms of a gene at the same locus are called ______

A

Locus

alleles

17
Q

Caused by a defective gene at a single locus

Characterized by patterns of transmission
-inheritance depends on phenotype

Lead to abnormalities in protein synthesis and enzyme production

A

Single-Gene Disorders

18
Q

Marfan Syndrome

A 
AUTOSOMAL DOMINANT DISORDER
Affects:
-Ocular System
-Cardiovascular System
-Skeletal System
19
Q

Symptoms of Marfan Syndrome

A 
Arachnodactyly
Kyphosis; scoliosis
Pigeon chest
Myopia (nearsighted)
Retinal detachment
Mitral valve prolapse; weakness of the aorta and other arteries
20
Q

Hemophilia (Royal Family)

A

SEX-LINKED DISEASE

Blood does not clot normally - factors in blood are involved in clotting. Lacking factor VIII = Hemophilia A

21
Q

Disorders in which multiple factors are involved

A

Multifactoral Inheritance Disorders

22
Q

Ex. of congenital disorders

A

Cleft lip/palate
Clubfoot
Congenital heart disease
Urinary tract malformation

23
Q

Ex. of environmental factors

A 
Coronary artery disease
Diabetes mellitus
HTN
Cancer
Bipolar Disorder
Schizophrenia
24
Q

Harmful effects of alcohol occur throughout pregnancy

May result in prenatal or postnatal growth retardation, effects on the CNS, and characteristic facial features

A

Fetal Alcohol Syndrome

25
Q

Facial features of FAS

A 
Microcephaly
Flat Nasal Bridge
Smooth philtrum (medical cleft)
Short nose; small chin
Thin vermilion border (upper lip)
Epicanthal folds - small palpebral fissures
26
Q

Human Allelic Disorders (Dominant)

-Autosomal dominants

A

Achondroplastic dwarfism

Polydactly

27
Q

Autosomal dominant resulting in progressive destruction of brain cells
-If a parent has the disease, 50% of the children will have it (HOMOZYGOUS DOMINANT = ALL CHILDREN HAVE DISEASE)

A

Huntington’s Disease

-Does not manifest until after 30

28
Q

Autosomal Recessive

-Are a subgroup of lipid storage disorders called sphingolipidoses in which harmful quantities of fatty substances, or lipids, accumulate in the spleen, liver, lungs, bone marrow, and brain

A

Nieman Pick Disease (MISSENSE MUTATION)

-Ashkenzazi Jews:
-1 in 40,000 type A
-Type A and B 1 in 250,000
- 1 in 150,000 Type C
(Genetic counseling highly encouraged)

29
Q

Color Blindness

-Color perception depends on 3 genes, each producing chemicals sensitive to different parts of the visible light

A

Sex-linked traits

  • 8% males and 0.04% females
  • Red and Green are on the X-chromosome
  • Blue on autosome
30
Q

Genetic Technology

A
  • Gene mapping (human and other animals)
  • Cloning (dolly)
  • Recombinant DNA Technology (Insulin)
  • Gene Therapy (Cancer treatments, inserting genes into genome of an individual of a disease
  • DNA fingerprinting

Pathophysiology (18 decks)

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