LMP301 Lecture 18: Prenatal Screening & Neural Tube Defects Flashcards Preview

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Flashcards in LMP301 Lecture 18: Prenatal Screening & Neural Tube Defects Deck (75)
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1

define: genetics

the science of inheritance

2

define: Mendelian genetics

single gene (disorders)

3

define: genomics

science of the genome

4

define: genome

genetic information specifying an organsim

5

define: gene

a genetic unit

6

define: single-copy, translated gene

gene making a protein

7

define: locus

a genetic location

8

define: allele

a genetic variant at a locus (wild type vs. mutant)

9

define: diallelic

2 alleles at a locus

10

define: chromosome

assembly of genes packed together

11

define: euploidy

normal number of chromosomes (23 pairs in humans)

12

define: aneuploidy

- abnormal number of chromosomes
- abnormal content in chromosomes

13

trisomy 21

genome with 3 copies of chr 21 (Down Syndrome)

14

how many genomes can 1 person have?

2 (1 from mom and 1 from dad)

15

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

16

50% of a buccal swab DNA is...

bacterial

17

where are most parasites in our body found?

GI

18

How many genomes do transplanted hearts have?

4

19

define: gene pair

joining of 2 haploids (sperm & egg)

20

what forms about 4 days after fertilization?

morula

21

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.

22

size of embryo at 12-15 weeks

dime

23

when is fetal death the highest?

very early pregnancy; levels off at 20 weeks

24

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

25

how is the embryo lost early pregnancy?

- miscarriage
- menstrual loss

26

the neural tube forms the...

CNS
- brain
- spinal cord

27

the neural tube forms from the...

ectoderm

28

what is the incomplete neural tube referred to?

neural groove

29

what surrounds the neural tube during development?

somite

30

NTD

neural tube defects