Genetics

Question 1

Genotype

Answer 1

A person’s unique genetic composition

Question 2

Phenotype

Answer 2

Observable traits (anatomic, physiologic, biochemical, behavioral) as a result of genes

Question 3

Congenital disorders

Answer 3

Birth defects
Gestation, during birth process, or at the genetic level

(Gestation) FAS
(Birthing process) anoxia —> cerebral palsy
(Genetics) Huntington’s disease

Question 4

Nucleotides

Answer 4

Precursors to DNA and RNA

Nitrogen base, five-carbon sugar (Ribose or Deoxyribose) and a phosphate group

Also used in metabolic pathways
Protein synthesis, energy metabolism, signal transduction, regulation of enzyme activity.

Ex: ATP GTP CTP UTP (Metabolism)
Cell signaling cGMP and cAMP
Regulating enzyme activity coenzyme A, FAD, NAD, NADP+

Question 5

Polyploidy

Answer 5

State of having 1 or more extra sets of chromosomes

Too many pairs are incompatible with life and result in spontaneous abortion

Question 6

Aneuploidy

Answer 6

Alteration in the chromosomal number
Single missing or extra chromosomes—> failure to divide properly

45 or 47 chromosomes

Question 7

Monosomy Aneuploid

Answer 7

Missing one chromosome in a pair

Ex: turner’s syndrome XO 45 chromosomes, sex-linked

Question 8

Trisomy Aneuploid

Answer 8

More than 2 chromosomes in a pair

Ex: Down syndrome autosomal trisomy three chromosomes on the 21st pair

Sex-linked trisomy is Klinefelter’s syndrome XXXY

Question 9

Deletion

Answer 9

Chromosomes are broken and DNA is lost

Ex: Cri du chat

“Cry of the Cat” developmental delay, low birth wt, mental delay, heart defects, and missing kidney’s

Question 10

Inversion

Answer 10

Two breaks of the chromosomes followed by reinsertion of the missing fragment with different information.

Ex:
OG: ABCDEFG
NEW: ABCEDFG

No physical problems —> offspring might have genetic issues (deletion or duplication)

Question 11

Translocation

Answer 11

Exchange of genetic material between non-homologous chromosomes, unusual rearranging of chromosomes.

No problems —> offspring genetic issues

Question 12

Homozygous

Answer 12

RR or rr

Alleles of the genotype are the same

Question 13

Heterozygous

Answer 13

Rr
Alleles of the genotype are different

Question 14

Duplication

Answer 14

Repeated coding of the chromosome segments

ABCABCDEF

Question 15

Reciprocal translocation

Answer 15

Two breaks in a chromosome and they switch places
Ex:

Before:
ABCDE
GHIJK

After:
ABIJK
GHCDE

Question 16

Fragile Sites

Answer 16

Number of areas on a chromosome with gaps and breaks

Fragile X syndrome
Cognitive impairment common in males
Elevated number of repeated sequences in DNA

Question 17

Locus

Answer 17

A gene’s position on a chromosome

Question 18

Alleles

Answer 18

Genes on a particular locus take on different forms

EE
Er
rr

Question 19

Polymorphic or polymorphism

Answer 19

A locus containing two or more alleles that occur frequently in a population
When there are two or more possibilities of a trait on a gene

Ex: ABO blood group
A
B
AB
ABO

Question 20

Heterozygote

Answer 20

Having different alleles for a particular trait
(Er) two different alleles paired together

Question 21

Homozygote

Answer 21

Carrying the Same genetic trait on each allele

EE and ee

Expressing the same characteristic

Question 22

Codominance

Answer 22

When both alleles are expressed

ABO blood type

Question 23

Autosomal Transmission

Answer 23

Autosomal transmission is not passed down in offspring specific to the individual

Question 24

Sex-linked transmission

Answer 24

Sex-linked genetic disease are able to be passed down to off-spring

Commonly on the X chromosome and affects males

Question 25

DNA

Answer 25

Code for all protein synthesis, DNA replication is done by DNA polymerase and in the nucleus of a cell during the “S” phase

Contains deoxyribose

Adenine - Thymine
Cytosine - Guanine

Question 26

RNA

Answer 26

Contains ribose sugar, bridge between DNA and protein synthesis.

Messenger RNA transcription in the cell nucleus —> leaves the nucleus and goes to the ER “How to”

Ribosomal RNA builds ribosomes

Transfer RNA translation builds builds proteins