Genetic Basis of Disease

Question 1

what is a gene

Answer 1

basic unit of heredity

Question 2

what are epigenetic changes

Answer 2

alterations of gene expression

Question 3

what are pharmacogenomics

Answer 3

interactions btwn genetics and meds

Question 4

what are genetics

Answer 4

study of inherited traits or study of genes

Question 5

what are genomics

Answer 5

study of all genetic material

Question 6

what is DNA

Answer 6

double stranded helical structure of nucleotides

Question 7

what is central dogma

Answer 7

how it works

Question 8

what are exons

Answer 8

portions of genome that encodes proteins

Question 9

what are introns

Answer 9

portions of genome that do not encode for proteins

Question 10

what are codons

Answer 10

set of 3 nucleotides that signal a specific amino acid

Question 11

what are genetic mutations

Answer 11

damage or change to a gene that alters genetic code
may be inherited or occur sporadically

Question 12

what is a germ cell mutation

Answer 12

gametes affected: may be passed to offspring

Question 13

what is a somatic cell mutation

Answer 13

body cells
not passed to offspring

Question 14

what is gene nomenclature

Answer 14

specific name: BRCA1

Question 15

what is gene locus

Answer 15

chromosome #, arm, and region

Question 16

what happens in transcription

Answer 16

DNA to mRNA
RNA polymerase uses DNA as template to form mRNA strand
spliceosomes- excise introns
mRNA leaves nucleus

Question 17

what happens in translation

Answer 17

mRNA to protein
ribosome- mRNA transcript “read”
tRNA- one end binds to 3-nucleotide sequence on mRNA…. other end contains corresponding amino acid for the nucelotide sequence
amino acids linked by peptide bonds

Question 18

what is allele inheritance

Answer 18

a gene that is inherited from 1 parent

Question 19

what does heterozygous mean

Answer 19

alleles carry different traits

Question 20

what does homozygous mean

Answer 20

alleles have idenitical triats

Question 21

what does dominant trait mean

Answer 21

1 allele needed for expression indicated by capital letter

Question 22

what does recessive trait mean

Answer 22

both identical alleles needed
indicated by lower case letter

Question 23

what is a carrier

Answer 23

heterozygous for recessive trait

Question 24

what is a genotype

Answer 24

a genetic code

Question 25

what is a phenotype

Answer 25

physical expression of genes

Question 26

what is mendelian inheritance

Answer 26

1 copy of a gene inherited from both parents

Question 27

what are autosomal triats

Answer 27

1 copy of dominant allele or 2 copies of a recessive allele to express a quality

Question 28

what is sex linked inheritance

Answer 28

x-linked inheritance

Question 29

what is genetic penetrance and expressivity

Answer 29

ratio of ppl w/ a phenotype combined to the genotype

Question 30

what are some charatcerisitcs of mitochondrial DNA

Answer 30

inherited from mother can be damaged by free radicals damage implicated in disease like diabetes, cancer and heart failure disorders can be inherited: neurodegenerative disorders, hypertrophic cardiomyopathy

Question 31

what is aneuploidy

Answer 31

different # of chromosomes than 46

Question 32

what is translocation

Answer 32

1 piece of a chromosome breaking off and joining another

Question 33

what is deletion

Answer 33

piece of chromosome is broken and lost

Question 34

what are some examples of genetic assessment

Answer 34

pedigree (genogram) karyotyping polymerase chain reaction FISH southern blotting

Question 35

what are some characterisitics of prenatal screening

Answer 35

women 35 yrs or older abnormal ultrasound findings close blood relative couple condition w/ risk of fetal problems unexplained or multiple miscarriages family hx early detection of birth defects

Question 36

what are examples of prenatal genetic disorder screening

Answer 36

materal serum screening chorionic villus sampling amniocentesis percutaneous umbilical cord blood screening

Question 37

what can prenatal genetic screening identify

Answer 37

neural tube defects down syndrome chromosome abnormalities spina bifida cleft palate cystic fibrosis

Question 38

what are some characteristics of familial hypercholesterolemia

Answer 38

autosomal dominant- short arm of chromosome 19 lack of LDL receptors (elevated LDL in blood) homozygous (more severe) and heterozygous forms widespread atherosclerosis may develop

Question 39

what are some characterisitcs of marfan's syndrome

Answer 39

autosomal dominant- can result from sporatic mutation fibrillin-1 gene mutation on chromosome 15 damage to fibrillin heart diease- mainly aortic dilation and dissection- avg death 30-40

Question 40

what are some characteristics of cystic fibrosis

Answer 40

autosomal recessive defect in cystic fibrosis transmembrane conductance regulator gene disrupts lung function (excess mucous) and pancreatic secreation (malabsorption of nutrients) treatments- pancreatic enzyme supplements, bronchodilators, mucolytics, and nutritional supplements

Question 41

what is tay-sachs disease

Answer 41

lysosomal storage disease abnormal hexosaminiase A enzye (chomosome 15) leading to ganglioside accumulation in CNS

Question 42

what is neimann-pick disease

Answer 42

lysosomal storage disease deficiency in sphingomyelinase lipids accumulate in brain, spleen, liver, and lymph nodes

Question 43

what is gaucher disease

Answer 43

most common lysosomal storage disease accumulation of glucocerebrosides in macrophages and CNS 150 gene mutations can result in this condition

Question 44

what is klinefelter syndrome

Answer 44

XXY karyotype lack of development of testes, gynecomastia, skeletal and heart abnomalities decreased cognitive development testosterone replacement needed

Question 45

what is turner syndrome

Answer 45

X0 karyotype may result in spontaneous abortion short stature and infertility lack of breast development and amenorrhea at puberty estrogen therapy and hormone replacement

Question 46

what is down syndrome

Answer 46

trisomy 21 most common chromosomal disordere flat facial profile, epicanthic folds around eyes 80% have IQ of 25-50