Integumentary System Pathology 1 - Basic Pathology, Genetics

Question 1

What are the three most common types of genetic mutations?

Answer 1

(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

Question 2

What type of mutation causes sickle cell anemia?

Answer 2

Point mutation

Question 3

What is a karyotype?

Answer 3

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

Question 4

What are the 3 types of inheritance patterns?

Answer 4

(1) Autosomal dominant

(2) Autosomal recessive

(3) X-linked

Question 5

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

Answer 5

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

Question 6

What are some examples of autosomal recessive disorders?

Answer 6

(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

Question 7

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

Answer 7

(1) Atherosclerosis

(2) Diabetes mellitus type II

(3) Hypertension

(4) Allergies

(5) Cancer

(6) Cleft lip and palate