Chapter 10

Question 1

DNA polymorphism

Answer 1

differences in sequences

Question 2

anonymous DNA polymorphism

Answer 2

affects neither the nature nor the amounts of any protein in the body

Question 3

Types of DNA polymorphism

Answer 3

1. Single Nucleotide Polymorphisms (SNPs)
2. Deletions-insertion polymorphisms (DIP or InDels)
3. Simple Sequence Repeats (SSRs)
4. Copy Number Variants (CNVs)

Question 4

-the most common type of genetic variant which are particular base positions in the genome where alternative letters of the DNA alphabet distinguish some people from others

Answer 4

Single Nucleotide Polymorphisms (SNPs)

Question 5

Short insertion or deletions of genetic material in the human genome involving only one or two nucleotides

Answer 5

Deletion-insertion polymorphisms (DIPs or InDels)

Question 6

Simple sequence repeats (SSRs) also termed “microsatellites”

Answer 6

• Occurs outside the coding regions of genes and have no effect on phenotypes
• If it occurs within the gene, it can have a profound phenotypic consequence
• arise spontaneously from rare, random events that produce a short repeated sequence with four to five repeating units

Question 7

Copy number variants (CNVs)

Answer 7

variable number of copies of large blocks of genetic material
-Produced by unequal crossing over events during meiosis

Question 8

prenatal genetic diagnosis

Answer 8

involving genotyping fetal cells by the methods described

Question 9

amniocentesis

Answer 9

a procedure in which some of the amniotic fluid surrounding the fetus in the mother’s womb is extracted using a needle

Question 10

preimplantation embryo diagnosis

Answer 10

begins with a woman injected with FSH to stimulate the maturation of about 10 eggs in her ovaries