Genetics Flashcards

1
Q

Genotype

A

A person’s unique genetic composition

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2
Q

Phenotype

A

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

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3
Q

Congenital disorders

A

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

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

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4
Q

Nucleotides

A

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+

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5
Q

Polyploidy

A

State of having 1 or more extra sets of chromosomes

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

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6
Q

Aneuploidy

A

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

45 or 47 chromosomes

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7
Q

Monosomy Aneuploid

A

Missing one chromosome in a pair

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

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8
Q

Trisomy Aneuploid

A

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

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9
Q

Deletion

A

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

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10
Q

Inversion

A

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)

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11
Q

Translocation

A

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

No problems —> offspring genetic issues

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12
Q

Homozygous

A

RR or rr

Alleles of the genotype are the same

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13
Q

Heterozygous

A

Rr
Alleles of the genotype are different

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14
Q

Duplication

A

Repeated coding of the chromosome segments

ABCABCDEF

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15
Q

Reciprocal translocation

A

Two breaks in a chromosome and they switch places
Ex:

Before:
ABCDE
GHIJK

After:
ABIJK
GHCDE

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16
Q

Fragile Sites

A

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

17
Q

Locus

A

A gene’s position on a chromosome

18
Q

Alleles

A

Genes on a particular locus take on different forms

EE
Er
rr

19
Q

Polymorphic or polymorphism

A

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

20
Q

Heterozygote

A

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

21
Q

Homozygote

A

Carrying the Same genetic trait on each allele

EE and ee

Expressing the same characteristic

22
Q

Codominance

A

When both alleles are expressed

ABO blood type

23
Q

Autosomal Transmission

A

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

24
Q

Sex-linked transmission

A

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

Commonly on the X chromosome and affects males

25
Q

DNA

A

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

26
Q

RNA

A

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