Genetic Inheritance Patterns Quiz
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Questions and Answers

What is the result of a missense mutation?

Substitution of one amino acid for another in the coded protein.

What is the result of a nonsense mutation?

A stop codon that results in a truncated protein with limited or no function.

What is the difference between conservative and nonconservative mutations?

Conservative mutations result in amino acid substitutions with similar chemical properties, while nonconservative mutations result in substitutions with very different chemical properties.

What is a Punnett square used for?

<p>A Punnett square is a visual representation of inheritance patterns.</p> Signup and view all the answers

What is the difference between autosomal dominant and autosomal recessive inheritance?

<p>In autosomal dominant inheritance, affected offspring usually have one affected parent, while in autosomal recessive inheritance, parents of affected individuals are both heterozygotes (carriers).</p> Signup and view all the answers

What is the recurrence risk for a heterozygous female in an X-linked dominant inheritance pattern when mating with a normal male?

<p>50% of sons affected, 50% of daughters affected</p> Signup and view all the answers

What is the recurrence risk for an affected male in an X-linked recessive inheritance pattern when mating with a normal female?

<p>0% of sons affected, 100% of daughters affected</p> Signup and view all the answers

What is the transmission pattern for an X-linked dominant inheritance?

<p>Vertical; disease phenotype seen in generation after generation</p> Signup and view all the answers

What is the transmission pattern for an X-linked recessive inheritance?

<p>Vertical with 'skipped generations'</p> Signup and view all the answers

What is the transmission pattern for Holandric (Y-linked) inheritance?

<p>Vertical; only father to son transmission</p> Signup and view all the answers

What are the three types of Amelogenesis Imperfecta?

<p>Hypoplasia/Hypoplastic, Hypomineralization/Hypocalcified, Hypomature/Hypomaturation</p> Signup and view all the answers

What are the characteristics of Hypoplastic Amelogenesis Imperfecta?

<p>Deficiency in the amount of enamel present, reduced tooth size, thin enamel, small spaces between teeth, discoloration (yellow-brown)</p> Signup and view all the answers

What are the characteristics of Hypomineralization Amelogenesis Imperfecta?

<p>Deficiency in the quality of enamel, enamel more porous, rough, weak, easily wears away, creamy white, yellow, or brown in color, chalky in texture</p> Signup and view all the answers

What are the characteristics of Hypomature Amelogenesis Imperfecta?

<p>Failure to properly remove enamel matrix proteins, pathologically soft enamel, enamel may appear white-ish on the surface</p> Signup and view all the answers

What are the genes involved in Amelogenesis Imperfecta?

<p>AMELX, ENAM, MMP20, FAM83H</p> Signup and view all the answers

What is the difference between genotype and phenotype?

<p>Genotype refers to the set of alleles possessed by an individual organism, while phenotype refers to the appearance or manifestation of a characteristic.</p> Signup and view all the answers

What is the definition of a heterozygote?

<p>A heterozygote is an individual organism possessing two different alleles at a locus.</p> Signup and view all the answers

What is the definition of a homozygote?

<p>A homozygote is an individual organism possessing two of the same alleles at a locus.</p> Signup and view all the answers

What are the causes for genetic defects?

<p>The causes for genetic defects include chromosomal abnormalities, mitochondrial abnormalities, and mutations in genes affecting protein function/availability.</p> Signup and view all the answers

What is the difference between somatic cell mutations and germ cell mutations?

<p>Somatic cell mutations occur in non-reproductive cells and can lead to cancer and some congenital malformations, while germ cell mutations occur in reproductive cells and can be transmitted to progeny.</p> Signup and view all the answers

What is the definition of a gene?

<p>A gene is an inherited factor encoded in the DNA that helps determine a characteristic.</p> Signup and view all the answers

What is the definition of an allele?

<p>An allele is one of two or more alternative forms of a gene.</p> Signup and view all the answers

What is the definition of a locus?

<p>A locus is a specific place on a chromosome occupied by an allele.</p> Signup and view all the answers

What is the definition of a genotype?

<p>A genotype is the set of alleles possessed by an individual organism.</p> Signup and view all the answers

What is the definition of a phenotype?

<p>A phenotype is the appearance or manifestation of a characteristic.</p> Signup and view all the answers

Name three steps that are regulated in eukaryotes to control gene expression.

<p>modifications to access regions of DNA, posttranscriptional modifications, posttranslational modifications</p> Signup and view all the answers

What are constitutive genes and what are they responsible for?

<p>Constitutive genes are genes that are expressed at constant levels and are responsible for basic cellular functions or 'housekeeping genes' like ribosomes.</p> Signup and view all the answers

What is the role of gene regulation?

<p>Gene regulation determines what gene product is made, how much product is made, when the gene product is made, and where the gene product is made.</p> Signup and view all the answers

What is the primary site of regulation in gene expression?

<p>The primary site of regulation in gene expression is transcription, which involves the process of DNA to RNA.</p> Signup and view all the answers

What is the difference between regulated genes and constitutive genes?

<p>Regulated genes are only expressed when needed and can be expressed in all cells or a subset of cells, while constitutive genes are expressed at constant levels and are required for basic cellular functions.</p> Signup and view all the answers

What determines gene regulation?

<p>Gene regulation is determined by the DNA, which codes for all genes, and controls what gene product is made, how much product is made, when the product is made, and where the product is made.</p> Signup and view all the answers

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