Podcast
Questions and Answers
What type of genetic disorder is expressed by homozygotes with two copies of a gene?
What type of genetic disorder is expressed by homozygotes with two copies of a gene?
- X-linked
- Autosomal Recessive (correct)
- Y-linked
- Autosomal Dominant
Which of the following is an example of an autosomal dominant disorder?
Which of the following is an example of an autosomal dominant disorder?
- Achondroplasia (correct)
- Sickle cell
- Albinism
- Cystic fibrosis
What denotes monosomy in chromosomal abnormalities?
What denotes monosomy in chromosomal abnormalities?
- Having an extra chromosome
- Missing a chromosome (correct)
- Having a chromosomal deletion
- Having three of each chromosome
Which chromosomal abnormality is associated with Down syndrome?
Which chromosomal abnormality is associated with Down syndrome?
Which environmental factor is linked to complex genetic conditions?
Which environmental factor is linked to complex genetic conditions?
What is the main characteristic of X-linked disorders?
What is the main characteristic of X-linked disorders?
What kind of chromosomal change does a translocation represent?
What kind of chromosomal change does a translocation represent?
Which of the following is NOT considered a complex condition?
Which of the following is NOT considered a complex condition?
What chromosomal abnormality is trisomy?
What chromosomal abnormality is trisomy?
What type of chromosomal abnormality is polyploid?
What type of chromosomal abnormality is polyploid?
Nondisjunction
Nondisjunction
Deletion
Deletion
Translocation
Translocation
Inversion
Inversion
What type of genetic disorder involves changes in more than one gene along with environmental factors?
What type of genetic disorder involves changes in more than one gene along with environmental factors?
Which condition is an example of trisomy?
Which condition is an example of trisomy?
Which of the following disorders is classified as autosomal recessive?
Which of the following disorders is classified as autosomal recessive?
What best describes the term 'monosomy' in chromosomal abnormalities?
What best describes the term 'monosomy' in chromosomal abnormalities?
Which of the following conditions is associated with X-linked inheritance?
Which of the following conditions is associated with X-linked inheritance?
Which chromosomal anomaly involves a part of one chromosome moving to another chromosome?
Which chromosomal anomaly involves a part of one chromosome moving to another chromosome?
Which of the following is a classic example of a complex condition influenced by environmental factors?
Which of the following is a classic example of a complex condition influenced by environmental factors?
What is a characteristic of Autosomal Dominant disorders?
What is a characteristic of Autosomal Dominant disorders?
What type of mutation results in a stop codon?
What type of mutation results in a stop codon?
Which of the following best describes a frameshift mutation?
Which of the following best describes a frameshift mutation?
Which of the following is a chemical mutagen?
Which of the following is a chemical mutagen?
What type of mutation is referred to as a missense mutation?
What type of mutation is referred to as a missense mutation?
What effect do frameshift mutations typically have on proteins?
What effect do frameshift mutations typically have on proteins?
Flashcards
Single-gene disorders
Single-gene disorders
Genetic disorders caused by a mutation in a single gene.
Autosomal Dominant
Autosomal Dominant
A single copy of the mutated gene is enough to cause the disorder.
Autosomal Recessive
Autosomal Recessive
Requires two copies of the mutated gene to cause the disorder.
Chromosomal abnormalities
Chromosomal abnormalities
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Monosomy
Monosomy
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Trisomy
Trisomy
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Complex conditions
Complex conditions
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Nondisjunction
Nondisjunction
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What are genetic disorders?
What are genetic disorders?
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What are the main causes of genetic disorders?
What are the main causes of genetic disorders?
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X-linked inheritance
X-linked inheritance
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Mutation
Mutation
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Point mutation
Point mutation
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Frame shift mutation
Frame shift mutation
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What causes thymine dimers?
What causes thymine dimers?
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How does nitrous acid affect DNA?
How does nitrous acid affect DNA?
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Study Notes
Genetic Disorders
- Genetic disorders are health problems caused by DNA abnormalities, ranging from birth defects to chronic illnesses.
- Three main causes of genetic disorders:
- Mutations in a single gene
- Chromosomal abnormalities
- Complex conditions (interactions of multiple genes and environmental factors)
Autosomal Dominant Disorders
- Expressed by heterozygotes and homozygotes.
- One copy of the mutated gene is sufficient to cause the disorder.
- Examples: Huntington's disease, some cancers (breast and ovarian).
Autosomal Recessive Disorders
- Expressed by homozygotes.
- Two copies of the mutated gene are required to cause the disorder.
- Heterozygotes are carriers.
- Examples: Sickle cell anemia, cystic fibrosis, and albinism.
X-linked Disorders
- Males inherit X-linked alleles from their mothers.
- Females inherit X-linked alleles from both parents.
- Males can only transmit X-linked alleles to their daughters.
- Examples: Red-green color blindness, hemophilia, and Duchenne muscular dystrophy.
Chromosomal Abnormalities
- Involve the number or structure of chromosomes.
- Monosomy: Missing a chromosome (e.g., Turner syndrome).
- Trisomy: Having an extra chromosome (e.g., Down syndrome).
- Klinefelter syndrome: XXY (extra X chromosome in males).
- Other abnormalities: Polyploidy (having 3 or more of each type of chromosome).
- Changes in chromosomes structure:
- Deletion: Part of a chromosome is missing.
- Duplication: Part of a chromosome is repeated.
- Translocation: Part of one chromosome is moved to another.
- Inversion: Part of a chromosome is flipped.
- Non-disjunction: Failure of chromosomes to separate during cell division.
Complex Conditions
- Involve the interaction of multiple genes and environmental factors.
- Examples:
- Chronic diseases (heart disease, cancer, diabetes).
- Developmental disabilities (autism, ADHD, depression, schizophrenia).
- Environmental exposures (chemicals, pollution, diet) also contribute to complex conditions.
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