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Pathophysiology and Pharmacology > Chapter 6 Genetics > Flashcards

Chapter 6 Genetics Flashcards

1
Q

What is heredity

A

the passage of characteristics from parent to offspring

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2
Q

What is DNA

A

a type of nucleic acid that contain sugar, deoxyribose

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3
Q

Where is DNA found

A

mainly in the nucleus but also in the mitochondria and cytoplasm

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4
Q

What are the 4 nitrogenous bases

A

A, G, C , T

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5
Q

What are genes

A

are small functional hereditary units located on a specific site of a chromosome

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6
Q

What is genetic code

A

making a specific protein

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7
Q

What is a codon

A

a triplet code necessary for protein synthesis

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8
Q

How many different amino acids are there

A

20

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9
Q

What is RNA

A

reading of the genetic code

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10
Q

What is mRNA ?

A

a template for protein synthesis dependent on a codon sequence that is based on that of the complementary strand of DNA

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11
Q

What are exons

A

pieces of the coding RNA that are retained

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12
Q

What are introns?

A

Segements of the RNA that are excised

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13
Q

What is tRNA

A

delivers products for protein production

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14
Q

What is rRNA

A

produced in the nucleolus and nuclear ribosomal proteins

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15
Q

What is translation

A

protein synthesis of the genetic code

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16
Q

What are chromatids

A

one of two strands newly formed during the early process of chromosome duplication

17
Q

What is a centromere?

A

center region

18
Q

What are telomeres

A

the tips of each chromosome are composed of DNA segments

19
Q

What are histones

A

DNA is wound around spool-like protein cores

20
Q

What is a diploid?

A

number of chromosomes

21
Q

Autosomes

A

total number of chromosomes which is 46

22
Q

Sex chromosomes

A

2 sex chromosomes X and Y or XX

23
Q

Euploid Cells

A

multiple of the normal number of chromosomes

24
Q

Triploidy

A

three copies of each chromosome

25
Q

Tetraploidy

A

four copies of each chromosome

26
Q

Aneuploidy

A

abnormal amount of chromosomes

27
Q

Downs Syndrome (Trisomy 21)

A

three copies of one chromosome, intellectual disability, low nasal bridge, epicanthal folds, protruding tongue

28
Q

Turner syndrome

A

only one copy of any chromosome, females with only one X chromosome, underdeveloped ovaries, short stature, webbing of neck, edema, underdeveloped breasts

29
Q

Klinefelter syndrome

A

at least two Xs and one Y chromosome, male appearence, develope female-like breasts, small testes usually sterile, sparse body hair

30
Q

Disjunction

A

normal separation of chromosomes during cell division

31
Q

nondisjunction

A

usually the cause of aneuploidy, failure of homologous chromosomes or sister chromatids to separate normally during meiosis or mitosis

32
Q

Deletion

A

breakage or loss of DNA, Cri du chat syndrome (cry of the cat), deletion of short arm chromosome 5, low birth weight, intellectual disability

33
Q
  1. A person’s phenotype can be best described as:

a. the genetic makeup of an individual.
b. traits that are observable or apparent.
c. traits that are inherited in a recessive pattern.
d. traits that are inherited in a dominant pattern.

A

b. traits that are observable or apparent.

34
Q
  1. A person’s genotype can be best described as:

a. the genetic makeup of an individual.
b. traits that are observable or apparent.
c. traits that are inherited in a recessive pattern.
d. traits that are inherited in a dominant pattern.

A

a. the genetic makeup of an individual.

35
Q
  1. Which of these conditions follows a Mendelian pattern of recessive inheritance?

a. Coronary artery disease
b. Down syndrome
c. Marfan syndrome
d. Tay-Sachs disease

A

d. Tay-Sachs disease

36
Q
  1. Which of these conditions follows a multifactorial pattern of inheritance?

a. Coronary artery disease
b. Down syndrome
c. Marfan syndrome
d. Tay-Sachs disease

A

a. Coronary artery disease

37
Q
  1. Fortification of foods with folic acid has resulted in a significant reduction in the incidence of:

a. Huntington disease.
b. Turner syndrome.
c. neural tube defects.
d. cleft lip and palate.

A

c. neural tube defects.

38
Q
  1. Which of the following chromosomal abnormalities can result in an inheritable form of trisomy?

a. Nondisjunction during meiosis
b. Balanced translocation
c. Insertion
d. Deletion

A

b. Balanced translocation

39
Q
A

Pathophysiology and Pharmacology (11 decks)

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