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Medicine Sem 1 > Genetics week 9 > Flashcards

Genetics week 9 Flashcards

Genetic Variation in population: - Hardy Weinberg Principle - Causes of genetic variation

1
Q

What is the definition of probability

A
  • The probability of times a specific outcome occurs in a series of events
    -It ranges from 0 to 1
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2
Q

For independet events do we add or multiply

A

multiply

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3
Q

For mutually exclusive do you add or multiply

A

-Add

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4
Q

What is the significance of gene and genotype frequencies

A
  • They describe the porportion of alleles and genotypes in a population
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5
Q

What does the Hardy-Weinburg principle provide?-

A
  • It provides a mathematical relationship between gene frequencies and genotype frequencies in a population
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6
Q

What does they hardy-weinburg assume

A

-There is random mating
-No evolutionary influences such as selection,mutation or migration

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7
Q

When can all genotypes be directly observed and counted

A

When they are co dominant

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8
Q

What are the implications of hardy weinburg principle

A
  • Provides a baseline for comparing real populations to see if evolutionary forces are at work
  • Deviation suggest processes like selection,Mutation,migration or non-random mating
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9
Q

Name 3 main causes of genetic variation

A
  • Mutations
    -Natural selection
  • Selective advantage of disease mutation
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10
Q

What is the role of natural selection as causing genetic variation

A
  • Acts as the editor of genetic variation:
  • It increases frequencies of favorable mutations that improve survival and reproduction
    -It decreases the frequencies of favourable mutations that reduce survival and reproduction
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11
Q

What is the definition of natural selection

A

Natural selection is an evolutionary process where alleles that confer survival or reproductive advantages are postively selected,increasing their frequency

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12
Q

What is genetic drift

A
  • It is a random evolutionary process that causes changes in gene frequencies, particularly in small populations
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13
Q

What effect does gene drift have in small populations

A

-In small populations, gene frequencies can fluctuate significantly from generation to generation.

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14
Q

What effect does genetic drift have in large populations

A
  • They experience less random fluctiations
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15
Q

What is founder effect?

A
  • It is a specific type if genetic drift where a small population founded by a few individuals experiences large changes in gene frequency
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16
Q

What is the impact of genetic drift on disease alleles

A
  • It can increase or decrease the frequency of genetic disease
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17
Q

What is gene flow

A
  • The exchange of genes between populations through mating reduces genetic differences
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18
Q

What does the selective coefficient (s) represent

A
  • It represents the reduction in reproductive fitness due to a harmful allele
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19
Q

What is the mutation-selection balance

A
  • A balance between new mutations introducing harmful alleles and natural selection removing them
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20
Q

What are the challenges when diagnosing metabolic disorders

A

-Diagnosing metabolic disorders is difficult, often leading to underestimation of associated morbidity.

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21
Q

What is the inheritance pattern of metabolic disorders

A
  • Most metabolic disorders are autosomal recessive, requiring 2 mutant alleles to manifest symptopms
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22
Q

Metabolic disorders can be classified based on what factors?(4)

A
  • Pathological effects
    -Functional protein classes
    -Associated cofactors
    -Affected pathways
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23
Q

What is the role of enzymes in metabolism

A

-Enzymes act as catalysts, increasing rate of reactions
Theese reactions are essential for synthesizing, transferring, using, and degrading biomolecules, which are crucial for building and maintaining cells, tissues, and organs

24
Q

Name the 4 primary biomolecule groups

A
  • Nucleic Acids
    -Proteins
    -Carbohydrates
    -Lipids
25
Q

Name 3 pathways involved in metabolising biomolecules

A
  • Glycolysis
    -Energy production
    -Citric Acid cycle
26
Q

What is the impact of defective pathways

A
  • Can lead to human diseases, affecting various psychological processes
27
Q

What is Galactosemia

A
  • A common monogenic disorder of carbohydrate metabolism
28
Q

What is the prevelance of Galactosemia

A

Affects 1 in 500,000 new borns

29
Q

What is Galactosemia caused by

A
  • Mutations in the gene coding galactose-1-phosphate uridyl transferase
30
Q

What is the result of galactose-1-phosphate uridyl transferase deficiency

A
  • Prevents the conversion of galactose into glucose leading to the accumulation of galactose
31
Q

What do symptoms of Galactosemia include and when do the symptoms appear

A

-jaundice,poor sucking and if left untreated: sepsis , liver damage and death can occur

  • Symptoms appear in the newborn period
32
Q

What is the diagnois for Galactosemia

A

-Newborn screening

33
Q

What are the long term effects of having Galactosemia

A
  • poor growth
    -Development delay
    -Speech problems
34
Q

Name the 2 types of fructose metabolism defects

A

1.Fructosekinase deficiency
2.Hereditary Fructose Intolerance

35
Q

which types of fructose Metabolism defect is the most common

A
  • Fructosekinase deficiency
36
Q

What is fructokinase deficiency caused by

A
  • Mutations in the gene coding hepatic fructokinase
  • Results in fructose in the urine
37
Q

What is hereditary fructose intolerance caused by?

A

-Caused by a deficiency of fructose 1,6 bisphosphate adolase in the liver, kidney cortex and the small intestine

38
Q

What does Hereditary Fructose intolerance lead to

A
  • Leads go poor feeding,liver and kidney issues and potentially dath when the fructose or sucrose is ingested.
39
Q

What is the prevelance of Hereditary Fructose Intolerance

A
  • 1 in 20 000 births
40
Q

What does fructose 1,6 bisphosphate adolase deficinecy cause in realtion to Hereditary Fructose Intolerance

A
  • Causes impaired gluconeogenesis,hypoglycemia
41
Q

Which type of Fructose Metabolic Defect is asymptomatic

A

Fructokinase deficiency

42
Q

What are abnormalites in glucose metabolism a result of

A
  • environmental and gentic factors
43
Q

Name the 3 disorders of Glucose Metabolism

A
  • Type 1 diabetes mellitus
    -Type 2 diabetes mellitus
    -Maturity onest diabtes of the young(MODY)
44
Q

What is Type 1 diabetes Mellitus a result of
And when does it occur

A
  • Reduced or absent plasma insulin
    -Usually in childhood
45
Q

What is type 2 diabetes mellitus characterised by

A
  • insulin resistance
46
Q

What does MODY stand for as a glucose metabolism disorder

A
  • Maturtity onset diabetets of the young
47
Q

What helps to explain the pathways involved in glucose metabolism

A

rare genetic mutations

48
Q

Name and describe the examples of rare gene mutations that explain the pathways involved in glucose metabolism

describe: - What it causes and associated with

A
  • Insulin receptor gene mutation: causes insulin resistance
    -Mitochondrial DNA mutation: associated w hyperglycemia disorders
    -
49
Q

What is Lactose sugar made of?

A
  • Glucose and galactose
50
Q

What is lactose metabolised ?

A
  • lactas-phlorizin hydrolase
51
Q

What areas is Lactase persistence prevalent in

A
  • areas with high milk consumption
52
Q

How does lactase persistence offer a selective advantage

A

-By allowing adults to use dairy as vitamin D source

53
Q

What is the name of the disorder for lactose

A
  • Lactase Nonpersistence(Intolerance)
54
Q

What are the symptoms of Lactas Nonpersistence(Intolerance)

A
  • Nausea,bloating and diarrhea after lactose consumption
55
Q

How could the lactose content be reduced

A
  • By processing dairy

Medicine Sem 1 (33 decks)

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