Genetic Disorders and Inheritance

Flashcards about Genetic Disorders, Mendelian inheritance, and Prenatal Testing

What are the three classifications of genetic disorders?

Single-gene disorders, chromosome disorders, and multifactorial disorders.

What is the frequency of chromosome missegregation?

10^-2 per cell division

What is the frequency of chromosome rearrangement?

10^-4 per cell division

What is the frequency of base-pair mutations?

10^-10 per cell division

What does Mendelian inheritance reflect?

Rules of probability

What is the Rule of Multiplication used for?

Simultaneous events

What is the formula for the number of gamete recombination?

x = 2^n, where n is the number of tested genes

What is the formula for the number of zygote recombination?

y = x^2

What is the Rule of Addition used for?

Successive events

What is the formula for the probability of a dominant phenotype?

p = pAA + pAa, where A and a are alleles on a gene

What is the formula for the probability of disease risk?

p = pF + pP, where F is familial risk and P is population risk

What are two prenatal testing procedures used?

Amniocentesis and Chorionic Villus Sampling (CVS)

What is analyzed from the amniotic fluid during amniocentesis?

Fetal cells, fluid composition for biochemical tests, DNA analysis, and karyotyping

What is analyzed cells during chorionic villus sampling (CVS)?

Fetal cells for biochemical tests and karyotyping