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Flashcards in Pathpharm 2 week 2 Deck (79)
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1

One gene may “mask” another gene when the 2 are found together on a heterozygote. This refers to:

The principle of dominance.

2

The______________ gene’s characteristics are observable

“dominant”

3

The concealed gene is called_________

“recessive”

4

Genes for a ____________ disease occur in heterozygotes who carry 1 copy of the gene, but do not express the disease

“recessive”

5

What are some Injurois Genetic Factors that can lead to disease?

Nuclear alterations, Alterations in the plasma membrane structure, shape, receptors, or transport mechanisms

6

Sickle cell anemia and muscular dystrophy are examples of diseases caused by:

injurious genetic factors

7

_________________ result from a deficiency, excess, or structural abnormality in a chromosome.

Chromosomal disorders

8

Aneuploidy is a common chromosomal disorder resulting from:

an extra chromosome or a missing chromosome

9

Structural abnormalities involve:

loss (deletion) or excess (duplication) of part of a chromosome

10

What are two examples of chromosomal disorders?

Down’s syndrome, Cri du Chat

11

Trisomy 21 will cause which disease?

Down's Syndrome

12

______________ occurs when some cells have 3 copies of chromosome 21, but others do not.

Mosaic Down's syndrome

13

____________ occurs when nearly all or part of a chromosome 21 becomes attached to another chromosome in the cell

Translocation Down's Syndrome

14

T or F: Translocation Down's syndrome is inheritable.

TRUE

15

___________ results when a piece of chromosome 5 is missing.

Cri-du-chat

16

Infants with Cri-du-chat often have:

a high-pitched cry that sounds like a cat

17

T or F: No matter what the size of the deletion on chromosome 5 the effects on the person will be the same.

FALSE. Studies suggest the larger the deletion the more severe retardation will occur.

18

____________________________ disorders occur when a mutation is present in one copy of a gene carried on an autosome.

Autosomal dominant disorders

19

Children of a person with an autosomal dominant disorder have a __________ chance of inheriting the mutation

50.00%

20

T or F: In respect to autosomal dominant disorders- Males and females are equally likely to inherit the mutation and to be affected

TRUE

21

In this type of disorder Family history typically reveals the disorder in sequential generations

autosomal dominant disorders

22

What are two examples of Autosomal Dominant Disorders?

Huntington’s disease, Neurofibromatosis

23

____________ is a progressive brain disorder that causes uncontrolled movements, mental and emotional problems, and loss of thinking abilit

Huntington's disease

24

________________ occur when two mutations — one in each gene, for a gene on an autosome — are necessary to cause disease.

autosomal recessive disorders

25

______________(such as parents of an affected individual) carry one copy of the mutated gene, are asymptomatic, and are considered carriers.

Heterozygotes

26

If two carriers have children, each child has what odds of inheriting normal or affected genes?

25% chance of inheriting both mutations and having the disease, a 50% chance of one mutation and being an unaffected carrier, and a 25% chance of inheriting both normal alleles.

27

Sickle Cell anemia, Cystic Fibrosis are both examples of:

Autosomal Recessive Disorders

28

Cystic firbrosis results from:

abnormal sodium transport leading to airway and pancreatic duct obstruction

29

T or F: In autosomal recessive defects, only one parent needs to donate a defective gene.

FALSE. BOTH parents must donate the defective gene

30

________________________ are present when a mutation occurs in a gene on the X chromosome

X linked Recessive Disorder