Flashcards in LMP301 Lecture 18: Prenatal Screening & Neural Tube Defects Deck (75)
the science of inheritance
define: Mendelian genetics
single gene (disorders)
science of the genome
genetic information specifying an organsim
a genetic unit
define: single-copy, translated gene
gene making a protein
a genetic location
a genetic variant at a locus (wild type vs. mutant)
2 alleles at a locus
assembly of genes packed together
normal number of chromosomes (23 pairs in humans)
- abnormal number of chromosomes
- abnormal content in chromosomes
genome with 3 copies of chr 21 (Down Syndrome)
how many genomes can 1 person have?
2 (1 from mom and 1 from dad)
besides the 46 chromosomes, what other genomes do we have?
- 100 - 1000 mitochondrial genomes
- organ transplant receivers have 4
- bacterial genomes (millions)
- viral genomes (billions, even more if have flu)
- harmless parasitic genomes
50% of a buccal swab DNA is...
where are most parasites in our body found?
How many genomes do transplanted hearts have?
define: gene pair
joining of 2 haploids (sperm & egg)
what forms about 4 days after fertilization?
what is the morula?
a solid ball of cells resulting from division of a fertilized ovum, and from which a blastula is formed.
cells begin differentiating process to become embryonic sac, embryo...etc.
size of embryo at 12-15 weeks
when is fetal death the highest?
very early pregnancy; levels off at 20 weeks
why is there substantial rate of embryo loss in very early pregnancy?
- minimizes the possibility of severe malformations
- correct for serious mutations & maldevelopment
- shutdown developmental process early
how is the embryo lost early pregnancy?
- menstrual loss
the neural tube forms the...
- spinal cord
the neural tube forms from the...
what is the incomplete neural tube referred to?
what surrounds the neural tube during development?