Podcast
Questions and Answers
In a heterozygote (+/M) with haploinsufficient genes, which allele is considered dominant?
In a heterozygote (+/M) with haploinsufficient genes, which allele is considered dominant?
- Both alleles are equally dominant
- Wild-type allele (+)
- Neither allele exhibits dominance
- Mutated allele (M) (correct)
What is the expected phenotypic ratio of purple to white flowers in the second filial generation from a monohybrid cross of a pure purple flower and a pure white flower?
What is the expected phenotypic ratio of purple to white flowers in the second filial generation from a monohybrid cross of a pure purple flower and a pure white flower?
- 1:1
- 2:1
- 3:1 (correct)
- 4:0
According to Mendel's first law of equal segregation, what is true about gametes?
According to Mendel's first law of equal segregation, what is true about gametes?
- Gametes can carry two alleles of a gene pair
- All gametes carry the dominant allele
- Half of gametes carry one allele of a gene pair (correct)
- Gametes are formed by the random fusion of homologous chromosomes
What does the term phenotype refer to in genetics?
What does the term phenotype refer to in genetics?
What is represented by 'A/a;B/b' in comparison to 'Ab/aB' and 'AB/ab'?
What is represented by 'A/a;B/b' in comparison to 'Ab/aB' and 'AB/ab'?
Which of the following describes incomplete dominance?
Which of the following describes incomplete dominance?
What does the presence of one dominant allele indicate in the context of mutation?
What does the presence of one dominant allele indicate in the context of mutation?
How is codominance defined?
How is codominance defined?
Which blood type is associated with the genotype i/i?
Which blood type is associated with the genotype i/i?
Which of the following statements about ABO blood types is true?
Which of the following statements about ABO blood types is true?
What characterizes a loss of function mutation?
What characterizes a loss of function mutation?
What must be true for a mutation to be considered recessive?
What must be true for a mutation to be considered recessive?
What is the minimum number of units required to produce either the wild-type or mutant phenotype in a scenario involving codominance?
What is the minimum number of units required to produce either the wild-type or mutant phenotype in a scenario involving codominance?
What is a characteristic of non-sister chromatids?
What is a characteristic of non-sister chromatids?
What concept was proposed by Sutton and Boveri regarding Mendel’s 'particles'?
What concept was proposed by Sutton and Boveri regarding Mendel’s 'particles'?
What defines a homogametic sex in humans?
What defines a homogametic sex in humans?
Which of the following is a key feature of a reciprocal cross?
Which of the following is a key feature of a reciprocal cross?
In autosomal recessive pedigrees, which of the following is true?
In autosomal recessive pedigrees, which of the following is true?
What is indicated by the absence of skipping generations in an autosomal dominant pedigree?
What is indicated by the absence of skipping generations in an autosomal dominant pedigree?
What does pedigree analysis primarily allow geneticists to do?
What does pedigree analysis primarily allow geneticists to do?
Which of the following conclusions can be drawn from an autosomal dominant trait pedigree?
Which of the following conclusions can be drawn from an autosomal dominant trait pedigree?
What does the genotype G/g represent in a Punnett Square cross?
What does the genotype G/g represent in a Punnett Square cross?
What is indicated by performing a test cross?
What is indicated by performing a test cross?
Which of the following best describes Mendel’s Law of Equal Segregation?
Which of the following best describes Mendel’s Law of Equal Segregation?
In a diploid organism, how is the ploidy number denoted?
In a diploid organism, how is the ploidy number denoted?
Which statement is true regarding sister chromatids?
Which statement is true regarding sister chromatids?
In the case of an autosomal recessive disease like galactosemia, which of the following statements is true?
In the case of an autosomal recessive disease like galactosemia, which of the following statements is true?
What is a notable difference between polymorphisms and rare diseases?
What is a notable difference between polymorphisms and rare diseases?
In X-linked recessive inheritance, what is the consequence if a father is affected?
In X-linked recessive inheritance, what is the consequence if a father is affected?
If a woman is heterozygous for an X-linked dominant disease, what is the likelihood that she will pass the affected allele to her offspring?
If a woman is heterozygous for an X-linked dominant disease, what is the likelihood that she will pass the affected allele to her offspring?
Considering two parents where one has a rare conditions and the other is a known carrier, what is a possible outcome for their children?
Considering two parents where one has a rare conditions and the other is a known carrier, what is a possible outcome for their children?
What is the main reason that individuals affected by rare diseases are assumed not to have carriers in their family unless indicated otherwise?
What is the main reason that individuals affected by rare diseases are assumed not to have carriers in their family unless indicated otherwise?
In the described scenario about a man whose paternal grandfather has galactosemia, what is the inheritance pattern of this condition?
In the described scenario about a man whose paternal grandfather has galactosemia, what is the inheritance pattern of this condition?
If both parents are carriers of a recessive disorder, what is the probability of their child being affected?
If both parents are carriers of a recessive disorder, what is the probability of their child being affected?
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Study Notes
Autosomal Recessive Disease - Galactosemia
- Galactosemia is a rare, autosomal recessive disorder.
- The disease is caused by the inability to process galactose, a simple sugar.
- Individuals with galactosemia experience muscle, nerve, and kidney malfunction.
- The man's paternal grandfather is affected, indicating the man's father is a carrier.
- The woman's sister is affected, indicating the woman's mother is likely a carrier.
- Since the man is a carrier and the woman has a 50% chance of being a carrier, the probability of their first child having galactosemia is 1/8.
- If their first child does have the disease, the probability of their second child having it is 1/4.
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