Notes in 01. Three Major Categories of Genetic Disorders

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Published	11/19/2024	A familial disorder may have either a {{c1::genetic}} or {{c2::non-genetic}} etiology.
Published	11/19/2024	A disorder that is transmitted through the germline and derived from one's parents is called a {{c1::hereditary}} disorder.
Published	11/19/2024	A congenital disorder refers to a condition that is present {{c1::at birth}}.
Published	11/19/2024	Which of the following is an example of a single-gene disorder with large effects?a) Atherosclerosisb) Sickle cell anemiac) Diabetes mellitusd) Hypert…
Published	11/19/2024	Chromosomal disorders are typically caused by:a) Mutations in single genesb) Structural or numerical alterations in chromosomesc) Environmental factor…
Published	11/19/2024	Which of the following is an example of a complex multigenic disorder?a) Cholesterol transport disorderb) Chloride secretion disorderc) Hypertensiond)…
Published	11/19/2024	A point mutation where a single base is substituted with a different base is known as a:a) Nonsense mutationb) Missense mutationc) Frameshift mutation…
Published	11/19/2024	Which type of mutation alters the reading frame of the DNA strand?a) Missense mutationb) Nonsense mutationc) Frameshift mutationd) Copy number variati…
Published	11/19/2024	Mutations in noncoding sequences may result in:a) Frameshift mutationsb) Complete lack of transcription and defective splicingc) Conservative missense…
Published	11/19/2024	Trinucleotide-repeat mutations are characterized by:a) Substitution of a single nucleotideb) Amplification of a sequence of three nucleotidesc) Deleti…
Published	11/19/2024	A mutation that introduces a premature stop codon is called a {{c1::nonsense}} mutation.
Published	11/19/2024	Mutations that lead to abnormal protein synthesis by altering the DNA reading frame are known as {{c1::frameshift}} mutations.
Published	11/19/2024	Structural variations such as {{c1::amplifications}} or {{c1::deletions}} in coding genes can result in aberrant gain or loss of protein function.
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