applications A and B Flashcards
________ fouses on diagnosis and management of the medical, psychological, and social aspects of disease involving the mutation or influence of genes
medical genetics
What are the 3 types of hereditary diseases?
1) Mendelian (single gene)
2) chromosomal
3) multifactorial
_______ testing identifies individuals who are heterozygous for recessive conditions or have a chromosomal abnormality that could produce a condition in a future child. These individuals (have/don’t have) the genetic condition associated with the testing
carrier
don’t have
Newborn testing consists of a set of mandated genetic tests that together require only a few drops of blood from a _______
heel stick
What are the two examples of prenatal testing?
1) chorionic villus sampling
2) amniocentesis
________ uses a needle to penetrate the uterus and placenta of a pregnant woman to obtain amniotic fluid, which contains fetal cells
amniocentesis
______ uses a small tube passed transvaginally into the uterus to obtain tissue from the chorion on the outside of the placenta
Chorionic villus sampling
_______ measures levels of three proteins in pregnant woman’s blood between the 15th and 20th week of gestation
maternal serum screening (MSS)
an _______ produces images of the fetus that can be used to diagnose certain conditions, such as neural tube defect and other developmental abnormalities
ultrasound
ultrasound may be used routinely for accurate measurements of _______; such measurements can be used to determine due date
fetal age
________ identifies and isolates fetal cells in maternal blood circulation for DNA and chromosome analysis
fetal cell sorting
Preimplantation screening tests for hereditary diseases in fertilized embryos produced by _______
in-vitro fertilization
explain in-vitro fertilization (3)
1) Ovulation induced and eggs collected
2) embryo fertilized on Petri dish
- genetic screening using PCR
3) fertilized eggs implanted into the uterus
What does SNP stand for?
single nucleotide polymorphism
The _______ markers show association with the occurrence of some medical conditions
SNP