Chapter 6

Question 1

An orderly diagram of a family’s relevant genetic features

Answer 1

Pedigree

Question 2

The individual from whom the pedigree is initiated

Answer 2

Proband

Question 3

A person in a family who must carry a mutation because there are affected people in the family who could only have received a mutation from that person

Answer 3

Obligate Carrier

Question 4

Mating between related persons

Answer 4

Consanguinity

Question 5

Traits that represent natural phenotypic variation (e.g. eye color, hair color, dimples) and are much more common than inherited disorders

Answer 5

Autosomal Polymorphisms

Question 6

Nonidentical twins, resulting from two different eggs fertilized by two different sperm

Answer 6

Dizygotic Twins

Question 7

Identical twins, results from when one egg was fertilized by one sperm, and the embryo split into two identical embryos

Answer 7

Monozygotic Twins

Question 8

A trait that is shared by both members of a twin pair

Answer 8

Concordant Trait

Question 9

The percentage of twin pairs that are concordant for a trait

Answer 9

Concordance

Question 10

DNA analysis used to identify or rule out a specific genetic or chromosomal condition

Answer 10

Diagnostic Genetic Test

Question 11

A nondiagnostic screening test that uses cell-free fetal DNA released into maternal circulation from trophoblasts undergoing apoptosis

Answer 11

Noninvasive prenatal screening (NIPS)

Question 12

The genetic testing of embryos produced through in vitro fertilization (IVF)

Answer 12

Preimplantation Genetic Diagnosis (PGD)

Question 13

Testing of at-risk individuals before they develop clinical symptoms

Answer 13

Presymptomatic Genetic Testing

Question 14

Testing (at the phenotype or genotype level) a target population to identify unaffected carriers of a disease gene

Answer 14

Heterozygote Screening

Question 15

The use of genetic testing to guide treatment with drugs

Answer 15

Pharmacogenetic Testing