Podcast
Questions and Answers
Which characteristic is true for traits exhibiting Mendelian inheritance?
Which characteristic is true for traits exhibiting Mendelian inheritance?
- They are influenced by multiple genes.
- They show a continuous range of variation.
- They have a single gene with multiple alleles.
- They follow the laws of segregation and independent assortment. (correct)
What is the primary function of a pedigree in studying inheritance patterns?
What is the primary function of a pedigree in studying inheritance patterns?
- To show the exact genetic makeup of an individual.
- To determine the environmental factors affecting traits.
- To identify all alleles involved in a trait.
- To represent ancestral relationships and calculate risk of inheritance. (correct)
In a Punnett square, what does it allow researchers to determine?
In a Punnett square, what does it allow researchers to determine?
- The environmental influences on genetic traits.
- The phenotypic ratio of traits across generations.
- The complete genetic makeup of an offspring.
- The expected ratios of possible genotypes from two parents. (correct)
Which statement best describes autosomal dominant disorders?
Which statement best describes autosomal dominant disorders?
Which of the following is NOT characteristic of traits that follow Mendelian inheritance?
Which of the following is NOT characteristic of traits that follow Mendelian inheritance?
What is the likelihood of a child being affected by an autosomal dominant trait if one parent is heterozygous for the trait?
What is the likelihood of a child being affected by an autosomal dominant trait if one parent is heterozygous for the trait?
Which of the following characteristics is NOT true for autosomal dominant inheritance?
Which of the following characteristics is NOT true for autosomal dominant inheritance?
In cases of variable expressivity within autosomal dominant traits, which of the following is a possible explanation?
In cases of variable expressivity within autosomal dominant traits, which of the following is a possible explanation?
What is the main difference in allele presence between autosomal dominant and autosomal recessive inheritance?
What is the main difference in allele presence between autosomal dominant and autosomal recessive inheritance?
Which condition exemplifies autosomal dominant inheritance?
Which condition exemplifies autosomal dominant inheritance?
Flashcards
Mendelian Inheritance
Mendelian Inheritance
Inheritance of traits controlled by a single gene with two alleles, one potentially dominant over the other.
Autosomal Inheritance
Autosomal Inheritance
Inheritance of traits controlled by genes located on autosomes (non-sex chromosomes).
Pedigree
Pedigree
A chart showing family history and relationships, used to identify patterns of inheritance.
Punnett Square
Punnett Square
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Autosomal Dominant
Autosomal Dominant
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Autosomal Dominant Inheritance
Autosomal Dominant Inheritance
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Autosomal Dominant Trait Transmission
Autosomal Dominant Trait Transmission
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Autosomal Recessive Inheritance
Autosomal Recessive Inheritance
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Carrier in AR Inheritance
Carrier in AR Inheritance
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Genetic risk for AD Inheritance
Genetic risk for AD Inheritance
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Study Notes
Mendelian Inheritance
- Mendelian inheritance refers to the inheritance of traits controlled by a single gene with two alleles. One allele may be completely dominant to the other.
- Inheritance patterns depend on whether the gene is on an autosome or a sex chromosome.
- Mendelian inheritance follows the laws of segregation and independent assortment, where genes from each parent segregate into gametes at an equal frequency.
- Over 16,000 human traits/disorders follow simple Mendelian inheritance.
- Other traits, like height and hypertension, usually follow non-Mendelian patterns.
Studying Inheritance Patterns
- Pedigrees are charts showing family history and relationships, using standard symbols.
- Pedigrees show relationships, trait transmission across generations, and inheritance modes (e.g., autosomal dominant, recessive, X-linked).
- Pedigrees allow accurate risk calculation for family members.
Autosomal Dominant Inheritance
- In autosomal dominant inheritance, the trait manifests in heterozygotes (one mutant, one normal allele).
- Affected individuals typically have at least one affected parent.
- The trait often appears in every generation (vertical transmission).
- Males and females are equally affected.
- Affected children can be heterozygous or homozygous for the trait. Homozygosity usually results in a more severe phenotype.
- Exceptions to this pattern include new mutations or non-penetrance.
Autosomal Recessive Inheritance
- For autosomal recessive inheritance, both alleles must be abnormal for the trait to manifest.
- Affected individuals typically have unaffected parents who are carriers of the recessive allele.
- Affected children are usually born to unaffected parents.
- The trait often appears in multiple generations, in a horizontal transmission pattern
- Males and females are equally affected.
- Carriers have a 25% chance of having an affected child. Consanguineous matings increase the risk.
- Examples include cystic fibrosis, phenylketonuria, and sickle cell anemia.
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