Genetic abnormalities

Question 1

4 types of genetic abnormalities

Answer 1

1. Monogenic
2. complex trait
3. mitochondrial gene
4. chromosomal (# & structure) –problems with number & structure

Question 2

Monogenic (single gene) abnormalities types

Answer 2

• autosomal dominant
• autosomal recessive
• x-linked recessive

Question 3

autosomal dominant

Answer 3

• single mutant allele

- 50% chance of inheriting

Question 4

autosomal recessive

Answer 4

• both alleles affected
• 25% affected
• 50% carrier
• 25% unaffected

Question 5

x linked recessive

Answer 5

most sex linked disorders

Question 6

complex trait

Answer 6

• polygenic & environmental factors
• genetic factor & enviro factor together cause disease not each on own
  ex. Cardiovascular disease, diabetes (genetically predisposed & environmental)

Question 7

Mitochondrial gene disorders

Answer 7

• most mitochondrial in sperm are in tail. when sperm penetrates ovum, tail drops off, therefore x-linked. (maternal inheritance)
• 37 mitochondrial genes
• relate to the electron transport chain (respiratory chain)
• coded for enzymes relating to electron transport chain

Question 8

How many mitochondrial genes are there?

Answer 8

37

Question 9

mitochondrial gene disorders cause

Answer 9

neuromuscular defects
-because muscles need a lot of energy from mitochondria, neuromuscular has action potentials all time needs lots of energy from mitochondria

Question 10

Chromosomal

Answer 10

-issue with number of chromosomes or structurally inefficient

Question 11

full complement of chromosomes

Answer 11

euploidy

Question 12

abnormal number of chromosomes

Answer 12

aneulploidy

Question 13

missing chromosome in a pair

Answer 13

monosomy

Question 14

extra chromosome in a pair

Answer 14

trisomy

Question 15

chromosomal abnormal defects named by

Answer 15

chromosome #

ex. down syndrome is trisomy 21

Question 16

Turners syndrome

Answer 16

Female X0
(1 live birth in 3000)
small stature, broad chest w widely spaced nipples, poor breast dev, ovarian dysgenisis w primary amenorrhea, estrogen & progesterone deficiencies, infertility, multiple pigmented nevi, lymphedema of hands & feet, low posterior hairline, webbed neck

Question 17

klinefelters syndrome

Answer 17

Male XXY (1 in 500) 
-tall stature, lack of facial hair, narrow shoulders, long arm's & legs, testicular atrophy, infertility, decreased pubic hair, wide hips, gynecomastia

Question 18

structural defects

Answer 18

• inversions
• deletions
• translocations