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Flashcards in genetics terminology + terminology Deck (29):
1

age of onset is earlier and earlier presentation in successive generations or severity of disease worsens with successive generations

anticipation

2

diseases with anticipation

Huntington disease: trinucleotide repeats expand with successive generation

3

how often a genotype causes a particular phenotype
not all with mutant genotype show mutant phenotype
mutation appears to skip generations but still present

incomplete penetrance (may not get cancer)

4

2 alleles
neither is dominant

codominance (ABO blood type)

5

severity of phenotype varies from one individual to another

variable expression (tuberous sclerosis - different disease severity)

6

single gene has more than one effect on phenotype

pleiotropy (PKU: ID, light skin, musty body odor)

7

mutations at different loci can produce the same phenotype

locus heterogeneity:
marfanoid body habitus in:
marfan syndrome
MEN-2B
homocysteinuria

8

cells in body have different genetic makeup (lose genetic information during mitosis)

mosaicism

9

phenotype differences depend on whether mutation comes from mother's or father's genetic material (some genes normally inactivate one of the sex's chromosome)

imprinting:
both caused by deletion of gene on chrom 15
Prader-willi syndrome
angelman syndrome

10

deletion of gene on chrom 15
deletion of assigned active allele: paternal

Prader-Willi syndrome = Paternal

11

deletion of gene on chrom 15
deletion of assigned active allele: maternal

angelMan syndrome = Maternal

12

presents in infancy: hypotonia, poor feeding, almond-shaped eyes, downward turned mouth
symptoms: hyperphagia, obesity, short stature (partial GH deficiency), ID, behavior: tantrum, skin-picking, OCD, hypogonadotropic hyopgonadism → genital hypoplasia,childhood OP, delayed menarche

Prader-Willi syndrome = Paternal

13

diagnosis of prader-willi syndrome

FISH

14

ID
seizure
ataxia
inappropriate laughter

Angelman syndrome

15

amplify a sequence of DNA in 3 steps:
1) DNA denaturation: heat DNA → 2 strands separate
2) annealing: cool DNA + add DNA primers (in vivo is RNA primer) that bind to sequence to be amplified
3) elongation: DNA poly replicates sequence after the primer

PCR

16

sort + separate PCR DNA fragments based on size

gel electrophoresis

17

put PCR products in wells
run current through gel: DNA travels toward + electrode (anode)
smaller molecules travel further

gel electrophoresis

18

gel to separate protein particles

protein electrophoresis

19

1) separated DNA by size with gel electrophoresis
2) take DNA sample and put on filter and denature DNA to separate strands → labeled DNA probe (radioactive or fluorescent) binds/identifies DNA sample

southern blot
Down south = DNA
DNA sample
DNA probe

20

use DNA probe to identify RNA sample

northern blot
Rude yankees = RNA
RNA sample
DNA probe

21

use antibody probe to identify protein sample

western blot
Beef: protein
protein sample
antibody probe

22

use oligonucleotide probe to identify DNA binding proteins sample (TF)

southwestern blot

23

analyze patient's blood to determine if ANTIGEN is present in blood using antibodies (in wells of a plate)
anti-antigen antibodies added (an enzyme substrate) and bind to antigen →emit a color which detects the antigens presence

direct ELISA test

24

analyze patient's blood to determine if ANTIBODIES are present in blood using antigen (in wells of plate)
anti-antibody antibodies added (an enzyme substrate) and bind to antibodies → emit a color which detects the antigens presence

indirect ELISA test

HIV antibodies in blood: ELISA screening test
if +: confirmatory test is western bloot

25

use DNA or RNA fluorescent probe to bind to gene of interest
no fluorescence = deleted gene

FISH

26

cloning recombinant DNA molecules
use mRNA that corresponds to gene to be cloned
use reverse transcriptase to turn mRNA → complementary DNA (cDNA) (only contains EXONS since from mRNA = coding region)
insert cDNA into bacterial plasmid: replicate cDNA as bacteria replicates

cloning

27

delete gene from mouse's genome: knock-out mouse
insert gene: knock in mouse
insert gene randomly: constitutive insertion
targeted insertion: conditional insertion

modifying gene expression

28

metaphase chromosomes (condensed)
diagnose chromsomal imbalances by gross architecture

karyotyping

trisomy or sex-chromosome disorders

29

amniotic fluid test to diagnose trisomy 21 in utero

karyotyping

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