38 Questions
Which term refers to an inherited factor that helps determine a characteristic?
Gene
What is the term for one of two or more alternative forms of a gene?
Allele
What is the term for a specific place on a chromosome occupied by an allele?
Locus
What is the term for the set of alleles possessed by an individual organism?
Genotype
What is the term for the appearance or manifestation of a characteristic?
Phenotype
What is the term for an individual organism possessing two different alleles at a locus?
Heterozygote
Which gene mutation is responsible for 50% of cases of amelogenesis imperfecta?
FAM83H
What is the inheritance pattern associated with FAM83H mutation?
Autosomal dominant
Which protein is involved in the formation and growth of crystals in developing enamel?
ENAM
What is the inheritance pattern associated with MMP20 gene mutation?
Autosomal recessive
What is the key function of amelogenin in enamel formation?
Separates and supports the mineral crystals
Which inheritance pattern is associated with AMELX gene mutation?
X-linked Pattern
Which of the following is the main cause of Amelogenesis imperfecta?
Genetic mutations
Which of the following is NOT a clinical feature of Amelogenesis imperfecta?
Delayed tooth eruption
What is the genotypic ratio for a cross between two individuals with the genotype Aa?
1:4:1
What is the sex ratio for autosomal dominant inheritance?
Equal number of males and females affected
What is the recurrence risk for a heterozygous female mating with a normal male in X-linked recessive inheritance?
0% of sons affected and 100% of daughters heterozygous carriers
Which of the following is a characteristic of holandric (Y-linked) inheritance?
Transmission from father to son only
What is the mode of transmission for mitochondrial inheritance?
Vertical
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?
Amelogenesis Imperfecta
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?
Hypoplasia/Hypoplastic
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?
Hypomineralization/Hypocalcified
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?
Hypomature/Hypomaturation
Which of the following is a genetic dental disorder characterized by abnormal enamel thickness or pitting, but normal hardness?
Amelogenesis Imperfecta
Which of the following is a genetic dental disorder characterized by abnormal enamel thickness, but is soft and chalky in texture?
Dentinogenesis Imperfecta
Amelogenin
Separates and supports the mineral crystals in enamel formation
FAM83H is what type of inheritance pattern?
autosomal dominant
FAM83H
protein found in ameloblasts (produce tooth enamel) involved in the formation of enamel
AMELX, ENAM, MMP20 involved in making proteins essential for normal tooth development
True
FAM83H is believed to be involved in enamel formation
True
what are FAM83H Mutations?
Produce short proteins
In FAM83H Mutation the mutant protein is located?
In FAM83H normal proteins are located.
MMP20 mutations are
Autosomal recessive
Enamelysin
Key role in removing proteins no longer needed to allow enamel to harden
What cleaves amelogenin and ameloblastin into smaller pieces, easier to remove?
Enamelysin
The mutation causes incomplete removal of proteins, resulting in soft enamel with crystal structure.
Enamelysin
Mutations reduce the amount of protein or produce short protein missing critical regions for function.
Enamelin
This quiz explores genotypic ratios in simple genetic crosses and introduces the concept of pedigree analysis in human inheritance. Test your knowledge on genotypic ratios for single locus crosses and discover how symbols are used to represent different aspects of a pedigree.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
