Integumentary System Pathology 1 - Basic Pathology, Genetics Flashcards

1
Q

What are the three most common types of genetic mutations?

A

(1) Point mutations: single base pair alteration in DNA that causes a single amino acid change in a protein

(2) Deletion and frame shift: reading frame change in DNA replication caused by single base pair removal

(3) Trinucleotide repeats: base pair triplicates repeat, leading to proteins with many repeating amino acids

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2
Q

What type of mutation causes sickle cell anemia?

A

Point mutation

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3
Q

What is a karyotype?

A

A karyotype demonstrates the chromosomal characteristics of a cell or cell line. In a karyotype, metaphase chromosomes from a single cell nucleus are arranged in an array of pairs in descending order of size and position of the centromeres

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4
Q

What are the 3 types of inheritance patterns?

A

(1) Autosomal dominant

(2) Autosomal recessive

(3) X-linked

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5
Q

Familial hypercholesterolemia is an example of what type of inheritance pattern?

A

Autosomal dominant, in which there is partial or complete absence of LDL cholesterol receptors

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6
Q

What are some examples of autosomal recessive disorders?

A

(1) Phenylketonuria (PKU), a defect of phenylalanine hydroxylase leading to an inability to catabolize Phe

(2) Lysosomal storage diseases, such as Tay-Sachs disease

(3) Glycogen storage diseases

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7
Q

What are some examples of conditions with multifactorial/polygenic causes?

A

(1) Atherosclerosis

(2) Diabetes mellitus type II

(3) Hypertension

(4) Allergies

(5) Cancer

(6) Cleft lip and palate

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