Exam 2: Genetics

Question 1

Gene Therapy

Answer 1

-Involves inserting a healthy copy of the defective gene into the somatic cells

Question 2

Family History

Answer 2

-Single most cost effective piece of genetic information

Question 3

Types of genetic testing Available

Answer 3

-Maternal serum screening
-Fetal ultrasound
-Amniocentesis (invasive)
-Chorionic Villus sampling (invasive)

Question 4

Fetal Ultrasound

Answer 4

-Fetal Heart Activity
-Gestational Age
-Fetal Growth
-Fetal Anatomy
-Fetal Genetic disorder and anomalies
-placental position and function
-Well being

Question 5

Amniocentesis

Answer 5

-Obtains fluid to assess fetal cells
-Possible after 14 weeks
-use of US with amniocentesis

Question 6

Chorionic Villus Sampling

Answer 6

-Earlier diagnosis and rapid results
-10-13 weeks
-removes a small tissue specimen from the feral portion of the placenta
-reflects genetic makeup of the fetus

Question 7

Predictive Testing

Answer 7

-used to clarify the genetic status of asymptomatic family member
-Huntington’s Dz

Question 8

Population Based Screening

Answer 8

-PKU, galactosemia, sickle cell Dz

Question 9

Implications of genetic information

Answer 9

-Ethical
-Legal
-Social
*what happens with this information? anxiety, discrimination, imperfect, termination of pregnancy.

Question 10

Autosomal Dominant Inheritance

Answer 10

-a single abnormal gene on one of the first 22 non sex chromosomes from either parent
-50% chance of inheriting if one parent has dominant gene defect

Question 11

Autosomal Recessive

Answer 11

-People with only one defective gene in the pair are considered carriers, so they can pass on the abnormal gene to offspring.
-Risk of transmission with each pregnanchy is 25% with 2 carrier parents.

Question 12

Tay-Sachs Dz

Answer 12

-Fatal genetic lipid storage dz
-Common in jews and French canadians

Question 13

Down Syndrome or Trisomy 21

Answer 13

-upward slant of eyes
-flat facial profile
-various degrees of mental retardation