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Questions and Answers
Which term refers to an inherited factor that helps determine a characteristic?
Which term refers to an inherited factor that helps determine a characteristic?
- Locus
- Allele
- Genotype
- Gene (correct)
What is the term for one of two or more alternative forms of a gene?
What is the term for one of two or more alternative forms of a gene?
- Locus
- Genotype
- Gene
- Allele (correct)
What is the term for a specific place on a chromosome occupied by an allele?
What is the term for a specific place on a chromosome occupied by an allele?
- Gene
- Allele
- Locus (correct)
- Genotype
What is the term for the set of alleles possessed by an individual organism?
What is the term for the set of alleles possessed by an individual organism?
What is the term for the appearance or manifestation of a characteristic?
What is the term for the appearance or manifestation of a characteristic?
What is the term for an individual organism possessing two different alleles at a locus?
What is the term for an individual organism possessing two different alleles at a locus?
Which gene mutation is responsible for 50% of cases of amelogenesis imperfecta?
Which gene mutation is responsible for 50% of cases of amelogenesis imperfecta?
What is the inheritance pattern associated with FAM83H mutation?
What is the inheritance pattern associated with FAM83H mutation?
Which protein is involved in the formation and growth of crystals in developing enamel?
Which protein is involved in the formation and growth of crystals in developing enamel?
What is the inheritance pattern associated with MMP20 gene mutation?
What is the inheritance pattern associated with MMP20 gene mutation?
What is the key function of amelogenin in enamel formation?
What is the key function of amelogenin in enamel formation?
Which inheritance pattern is associated with AMELX gene mutation?
Which inheritance pattern is associated with AMELX gene mutation?
Which of the following is the main cause of Amelogenesis imperfecta?
Which of the following is the main cause of Amelogenesis imperfecta?
Which of the following is NOT a clinical feature of Amelogenesis imperfecta?
Which of the following is NOT a clinical feature of Amelogenesis imperfecta?
What is the genotypic ratio for a cross between two individuals with the genotype Aa?
What is the genotypic ratio for a cross between two individuals with the genotype Aa?
What is the sex ratio for autosomal dominant inheritance?
What is the sex ratio for autosomal dominant inheritance?
What is the recurrence risk for a heterozygous female mating with a normal male in X-linked recessive inheritance?
What is the recurrence risk for a heterozygous female mating with a normal male in X-linked recessive inheritance?
Which of the following is a characteristic of holandric (Y-linked) inheritance?
Which of the following is a characteristic of holandric (Y-linked) inheritance?
What is the mode of transmission for mitochondrial inheritance?
What is the mode of transmission for mitochondrial inheritance?
Which of the following is a genetic dental disorder characterized by teeth that are unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage?
Which of the following is a genetic dental disorder characterized by teeth that are unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage?
Which type of Amelogenesis Imperfecta is characterized by a deficiency in the amount of enamel present, resulting in reduced tooth size, thin enamel, small spaces between teeth, and discoloration?
Which type of Amelogenesis Imperfecta is characterized by a deficiency in the amount of enamel present, resulting in reduced tooth size, thin enamel, small spaces between teeth, and discoloration?
Which type of Amelogenesis Imperfecta is characterized by a deficiency in the quality of enamel due to a failure in mineralization, resulting in porous, rough, weak enamel that easily wears away after tooth eruption?
Which type of Amelogenesis Imperfecta is characterized by a deficiency in the quality of enamel due to a failure in mineralization, resulting in porous, rough, weak enamel that easily wears away after tooth eruption?
Which type of Amelogenesis Imperfecta is characterized by a failure to properly remove enamel matrix proteins and promote the hardening of the enamel layer, resulting in pathologically soft enamel?
Which type of Amelogenesis Imperfecta is characterized by a failure to properly remove enamel matrix proteins and promote the hardening of the enamel layer, resulting in pathologically soft enamel?
Which of the following is a genetic dental disorder characterized by abnormal enamel thickness or pitting, but normal hardness?
Which of the following is a genetic dental disorder characterized by abnormal enamel thickness or pitting, but normal hardness?
Which of the following is a genetic dental disorder characterized by abnormal enamel thickness, but is soft and chalky in texture?
Which of the following is a genetic dental disorder characterized by abnormal enamel thickness, but is soft and chalky in texture?
Amelogenin
Amelogenin
FAM83H is what type of inheritance pattern?
FAM83H is what type of inheritance pattern?
FAM83H
FAM83H
AMELX, ENAM, MMP20 involved in making proteins essential for normal tooth
development
AMELX, ENAM, MMP20 involved in making proteins essential for normal tooth development
FAM83H is believed to be involved in enamel formation
FAM83H is believed to be involved in enamel formation
what are FAM83H Mutations?
what are FAM83H Mutations?
In FAM83H Mutation the mutant protein is located?
In FAM83H Mutation the mutant protein is located?
In FAM83H normal proteins are located.
In FAM83H normal proteins are located.
MMP20 mutations are
MMP20 mutations are
Enamelysin
Enamelysin
What cleaves amelogenin and ameloblastin into smaller pieces, easier to remove?
What cleaves amelogenin and ameloblastin into smaller pieces, easier to remove?
The mutation causes incomplete removal of proteins, resulting in soft enamel with crystal structure.
The mutation causes incomplete removal of proteins, resulting in soft enamel with crystal structure.
Mutations reduce the amount of protein or produce short protein missing critical regions for function.
Mutations reduce the amount of protein or produce short protein missing critical regions for function.
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Study Notes
Genetic Terminology
- Inherited Factor: A term that refers to any genetic component influencing a characteristic.
- Allele: An alternative form of a gene found at a specific locus on a chromosome.
- Locus: The specific site on a chromosome where an allele is located.
- Genotype: The complete set of alleles an individual organism possesses.
- Phenotype: The observable appearance or manifestation of a specific characteristic.
- Heterozygous: An individual with two different alleles present at a locus.
Amelogenesis Imperfecta
- Main Mutation: FAM83H mutation accounts for 50% of cases of amelogenesis imperfecta.
- Inheritance Pattern for FAM83H: Dominantly inherited trait influencing enamel formation.
- Enamel Protein: Amelogenin plays a crucial role in the formation and growth of enamel crystals.
- MMP20 Gene: Exhibits an autosomal recessive inheritance pattern; involved in cleaving proteins during enamel maturation.
Amelogenesis Imperfecta Types
- Type Characterized by Quantity Deficiency: Deficiency in enamel amount leads to reduced tooth size and discoloration.
- Type Characterized by Quality Deficiency: Poorly mineralized, porous, weak enamel prone to wear.
- Type Related to Matrix Protein Removal: Failure to eliminate enamel matrix proteins results in pathologically soft enamel.
- General Disorder Features: Abnormal enamel thickness can present as either soft and chalky or normal hardness with pitting.
Inheritance Patterns and Ratios
- Genotypic Ratio for Aa x Aa Cross: Results in a ratio of 1:2:1 for genotypes (AA:Aa:aa).
- Sex Ratio for Autosomal Dominant Inheritance: Generally equal among genders.
- Recurrence Risk in X-linked Recessive: A heterozygous female mating with a normal male has a 50% chance for affected male offspring.
- Holandric (Y-linked) Inheritance: Traits are passed only from father to son, primarily affecting males.
Mitochondrial Inheritance
- Characterized by maternal transmission, affecting both sexes with variable expressivity.
Related Genetic Mutations
- FAM83H Mutations: Mutant protein mislocalization interferes with enamel formation.
- MMP20 Mutations: Enamelysin cleaves amelogenin and ameloblastin, facilitating their removal for enamel maturation.
Clinical Features
- Amelogenesis imperfecta leads to a range of symptoms from discolored teeth to abnormal enamel structure and hardness.
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