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Introduction to Genetics Flashcards

(71 cards)

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1
Q

What is the Central Dogma of Genetics?

A

The theory stating that genetic information flows only in one direction from DNA to RNA to protein or RNA directly to protein.

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2
Q

What are codons?

A

Groups of three nitrogenous bases in mRNA that code for amino acids.

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3
Q

What are mutations?

A

Alterations in the genetic material of an organism that can affect protein formation.

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4
Q

What are Trinucleotide Repeat Disorders?

A

Disorders that occur when the number of trinucleotide repeats in a gene exceeds the normal number, often affecting neurological functions.

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5
Q

What is anticipation in genetics?

A

A phenomenon where genetic disorders become more severe or appear earlier in successive generations due to increased trinucleotide repeats.

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6
Q

What is transcription in the context of the Central Dogma?

A

The formation of mRNA from DNA.

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7
Q

What is translation in molecular biology?

A

The process where ribosomes read mRNA to form proteins.

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8
Q

What are the four nitrogenous bases in mRNA?

A
  • Adenine * Cytosine * Guanine * Uracil
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9
Q

How many possible codons exist?

A

64 possible codons.

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10
Q

What is the start codon and what does it code for?

A

AUG, which codes for methionine.

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11
Q

What are the stop codons?

A
  • UAA * UAG * UGA
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12
Q

What types of mutations exist?

A
  • Point mutations * Frameshift mutations
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13
Q

What are point mutations?

A

Mutations that involve nucleotide exchange.

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14
Q

What are frameshift mutations?

A

Mutations that involve addition or deletion of nucleotides, shifting the reading frame.

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15
Q

What is an example of a Trinucleotide Repeat Disorder?

A

Huntington’s disease.

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16
Q

How are Trinucleotide Repeat Disorders inherited?

A

Often inherited in an autosomal dominant fashion.

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17
Q

What is a homozygote?

A

An individual with the same alleles at a locus.

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18
Q

What is a heterozygote?

A

An individual with different alleles at a locus.

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19
Q

What is the difference between genotype and phenotype?

A

Genotype refers to alleles present, while phenotype refers to observable characteristics resulting from the genotype.

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20
Q

What represents males and females in a pedigree chart?

A

Squares represent males, circles represent females.

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21
Q

What is autosomal dominant inheritance?

A

A pattern where a single mutated allele causes disease, with no skipped generations and equal transmission to males and females.

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22
Q

What diseases follow an autosomal dominant pattern of inheritance?

A
  • Familial Hypercholesterolemia * Huntington’s Disease * Neurofibromatosis Type 1 * Marfan Syndrome * Myotonic Dystrophies
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23
Q

What is co-dominance?

A

A condition where two alleles are expressed equally in the phenotype.

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24
Q

What is required for autosomal recessive inheritance?

A

Two copies of a mutated allele to express the disease.

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25
What is the effect of consanguinity on genetic disorders?
Increases the likelihood of recessive genetic disorders due to shared ancestry.
26
What is X-linked recessive inheritance?
Disorders transmitted through the X chromosome, more frequently affecting males.
27
What are examples of X-linked recessive disorders?
* Duchenne Muscular Dystrophy * Hemophilia A and B * Glucose-6-Phosphate Dehydrogenase Deficiency
28
What is X-linked dominant inheritance?
Disorders transmitted through the X chromosome, more frequently affecting females.
29
What is the probability of a child inheriting a disease if one parent carries an X-linked dominant gene?
50% of sons and daughters are affected.
30
What is mitochondrial pattern of inheritance?
Inheritance pattern involving mitochondria, which have their own DNA.
31
What is incomplete penetrance?
A phenomenon where individuals with a disease genotype do not display the disease phenotype.
32
What is pleiotropy?
A single disease-causing mutation affects multiple organ systems.
33
What is genetic imprinting?
A phenomenon where only one copy of a gene is expressed while the other is silenced.
34
What is uniparental disomy?
A condition where both copies of a chromosome are inherited from one parent.
35
What is the result of the deletion of the paternal gene in chromosome 15?
Prader-Willi syndrome ## Footnote Prader-Willi syndrome is characterized by obesity, intellectual disability, and behavioral problems.
36
What genetic condition arises from the deletion of the maternal gene in chromosome 15?
Angelman syndrome ## Footnote Angelman syndrome is characterized by severe intellectual disability, speech impairment, and ataxia.
37
What is uniparental disomy?
Inheriting both chromosome copies from one parent ## Footnote This can cause disease if imprinted regions are affected.
38
What percentage of Prader-Willi cases are due to maternal uniparental disomy of chromosome 15?
25-30% ## Footnote Maternal uniparental disomy can lead to the absence of paternal gene expression.
39
What does population genetics study?
Genetic variation in populations ## Footnote It helps understand the prevalence of various genetic diseases among populations.
40
What does genotype frequency measure?
The proportion of each genotype in a population for a given locus ## Footnote It is calculated by dividing the number of individuals with a specific genotype by the total population size.
41
What is allelic frequency?
The proportion of chromosomes that contain a specific allele ## Footnote It is calculated based on the number of times an allele appears in the population.
42
What is the Hardy-Weinberg equilibrium?
A mathematical model that calculates genotype frequencies from allelic frequencies ## Footnote It assumes a large population with random mating, no mutation, no selection, and no migration.
43
What is the Hardy-Weinberg equation?
p^2 + 2pq + q^2 = 1 ## Footnote This equation is used to predict genotype frequencies in a population.
44
What factors cause genetic variation?
* Mutation * Natural selection * Genetic drift * Gene flow ## Footnote These factors contribute to genetic diversity and influence the prevalence of genetic traits.
45
What is chromosome nomenclature?
The naming of chromosomes based on the position of the centromere ## Footnote Chromosomes are classified as metacentric, submetacentric, and acrocentric.
46
What is a karyotype?
An ordered display of the 23 pairs of human chromosomes ## Footnote It is typically observed during the metaphase stage of cell division.
47
What does aneuploidy refer to?
A gain or loss of specific chromosomes ## Footnote It can lead to conditions such as monosomy (loss of a chromosome) and trisomy (gain of an extra chromosome).
48
What is Turner syndrome?
Absence of one X chromosome in females, resulting in a 45,X karyotype ## Footnote Turner syndrome is characterized by short stature and infertility.
49
What is Klinefelter syndrome?
An extra X chromosome in males, resulting in a 47,XXY karyotype ## Footnote It is associated with testicular atrophy and gynecomastia.
50
What are structural chromosomal abnormalities?
Changes in the structure of chromosomes ## Footnote This includes translocations, deletions, inversions, and ring chromosomes.
51
What is Cri du Chat syndrome?
Caused by a deletion in the 5p position ## Footnote It is characterized by a high-pitched cry, intellectual disability, and microcephaly.
52
What is the multifactorial threshold model?
Diseases are either present or absent based on whether a threshold of liability is crossed ## Footnote This model can differ between males and females.
53
What is the significance of Body Mass Index (BMI) in relation to multifactorial inheritance?
BMI shows a bell-shaped distribution in the U.S. population ## Footnote A BMI of 30 kg/m² or greater indicates obesity, demonstrating a threshold model.
54
What is the recurrence risk assessment for multifactorial diseases?
Empirical estimation and consideration of affected relatives and disease severity ## Footnote This helps predict the likelihood of recurrence in families.
55
What BMI value indicates obesity?
30 kg/m² ## Footnote A BMI of 30 kg/m² or greater indicates obesity.
56
Is pyloric stenosis more common in males or females?
Males ## Footnote Pyloric stenosis has a prevalence of 3 in 1000 live births among whites.
57
What are the two potential outcomes for pyloric stenosis?
Surgery or spontaneous resolution ## Footnote The condition can be corrected by surgery or may resolve spontaneously.
58
How is recurrence risk for multifactorial diseases estimated?
Empirically ## Footnote Recurrence risk is estimated empirically based on affected relatives and severity.
59
What factors increase recurrence risk for diseases?
* Number of affected relatives * Severity of disease expression ## Footnote Risk increases with the number of affected relatives and severity of disease expression.
60
What is the recurrence risk for cleft lip estimated by?
Proportion of affected siblings ## Footnote Recurrence risk is estimated by measuring the proportion of siblings affected by cleft lip.
61
What is the sibling recurrence risk for neural tube defects if one sibling is affected?
3% ## Footnote The risk is 3% if one sibling is affected, increasing with more affected siblings.
62
What are examples of common diseases with multifactorial inheritance?
* Congenital malformations * Heart disease * Hypertension * Breast cancer * Colorectal cancer * Alzheimer's disease ## Footnote These diseases are influenced by genetic and environmental factors.
63
What mutations are associated with congenital malformations?
* HOX * PAX * TBX ## Footnote Congenital malformations are caused by mutations in these gene families and environmental factors.
64
What is the lifetime risk of breast cancer?
12% ## Footnote Breast cancer is the second most diagnosed cancer among women.
65
What is the leading cause of death related to heart disease?
Coronary artery disease ## Footnote Heart disease is the leading cause of death, with coronary artery disease being the most common form.
66
What technique is used to amplify specific DNA sequences?
Polymerase Chain Reaction (PCR) ## Footnote PCR allows for detailed analysis from small DNA samples.
67
What is genetic analysis used for?
* Prenatal diagnosis * Heterozygote carrier detection * Pre-symptomatic diagnosis ## Footnote Genetic analysis is used to detect abnormalities that can cause genetic diseases.
68
What does RFLP stand for?
Restriction Fragment Length Polymorphism ## Footnote RFLP is used to identify differences in DNA sequences.
69
What are the four main types of blotting techniques?
* Southern * Northern * Western * Dot blotting ## Footnote Each technique is specialized for different types of biological analysis.
70
What is the first trimester screening for prenatal testing?
PAPPA and SCG levels ## Footnote First trimester screening measures these levels to assess the risk of chromosomal abnormalities.
71
What diseases are newborns screened for shortly after birth?
* Phenylketonuria * Cystic fibrosis ## Footnote Newborn screening tests for various genetic diseases to allow for early intervention.

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