Podcast
Questions and Answers
Which of the following statements is true about genetic disorders?
Which of the following statements is true about genetic disorders?
- There are only 600 known genetic disorders
- All birth defects are hereditary
- Around 1 in 263 people are affected by a chromosomal disorder (correct)
- Single-gene disorders can only be passed on from both parents
What is the difference between autosomal dominant and autosomal recessive disorders?
What is the difference between autosomal dominant and autosomal recessive disorders?
- Autosomal dominant disorders only affect males, while autosomal recessive disorders affect females
- Autosomal dominant disorders are caused by chromosomal abnormalities, while autosomal recessive disorders are caused by single gene mutations
- Autosomal dominant disorders only require one mutated gene, while autosomal recessive disorders require two (correct)
- Autosomal dominant disorders require two mutated genes, while autosomal recessive disorders only require one
Which of the following statements is true about mitochondrial disorders?
Which of the following statements is true about mitochondrial disorders?
- They are caused by chromosomal abnormalities
- They are the most common type of genetic disorder
- They can be passed on through affected fathers
- They are only passed on through affected mothers (correct)
What percentage of people are affected by congenital genetic mutations?
What percentage of people are affected by congenital genetic mutations?
Which of the following is true about X-linked dominant disorders?
Which of the following is true about X-linked dominant disorders?
What is the difference between X-linked dominant and X-linked recessive disorders?
What is the difference between X-linked dominant and X-linked recessive disorders?
What can be used to prevent passing on single-gene disorders?
What can be used to prevent passing on single-gene disorders?
Which of the following is true about Y-linked disorders?
Which of the following is true about Y-linked disorders?
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Study Notes
Overview of Genetic Disorders and Inheritance Patterns
- Genetic disorders can be present before birth and produce birth defects, but not all birth defects are hereditary.
- Over 6,000 genetic disorders are known, with new ones constantly being described, and more than 600 of them are treatable.
- Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder.
- Congenital genetic mutations affect around 65% of people, and approximately 1 in 21 people are affected by a rare genetic disorder.
- Genetic disorders can be caused by a mutation in a single gene or multiple genes, or by a chromosomal abnormality.
- The mutation responsible can occur spontaneously or be inherited from one or both parents, and some disorders have X-linked or mitochondrial inheritance.
- Single-gene disorders can be passed on in several ways, and some disorders have reduced penetrance.
- Autosomal dominant disorders only require one mutated gene, while autosomal recessive disorders require two.
- X-linked dominant disorders affect males and females, but X-linked recessive disorders affect males more frequently.
- Y-linked disorders only affect males and are exceedingly rare.
- Mitochondrial disorders are the rarest and only passed on through affected mothers, but most mitochondrial diseases are actually caused by nuclear gene defects.
- In vitro fertilization and preimplantation genetic diagnosis can be used to prevent passing on single-gene disorders.
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