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nursing patho > 1st mini test ch 3 genetics > Flashcards

1st mini test ch 3 genetics Flashcards

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1
Q

Describe the purpose and results of the Human Genome Project

A
  • Revolutionized the way we understand DNA

- vastly increased knowledge about certain genetic links to disease

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2
Q

structure of DNA

A

Double- helical structure composed of nucleotides

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3
Q

nucleotide

A

pentose sugar molecule, a phosphate molecule, purine or pyrimidine nitrogen base

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4
Q

nitrogen base

A

adenine, thymine, guanine, cytosine (A-T C-G)

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5
Q

Transcription DNA → RNA

A
  • DNA synthesizes RNA within the nucleus
  • DNA used to make RNA, RNA is used to make proteins, proteins “run the show”
  • RNA= mirror image of a DNA strand
  • RNA= one strand
  • RNA nitrogen bases = adenine and uracil, cytosine and guanine
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6
Q

protein coding sequences =

A

exons, the portion of a gene that codes for amino acids.

-Only about 10% of genome

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7
Q

sequences w no code

A

intron

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8
Q

an average gene contains ____ nucleotide base pairs

A

3,000

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9
Q

roll call lmaooooooOO

A
  • base+base=bair pair
  • 3 base pair=codon
  • group of codons=genes
  • codons code for=amino acids
  • genes (group of codons) code for=proteins
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10
Q

amino acids are the base of _____

A

proteins

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11
Q

an average gene can code for 1,000 _______ _____

A

amino acids

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12
Q

Within a gene, an arrangement of three specific nucleotide bases=

A

codon

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13
Q

gene is the “recipe” for making a ____

A

protein

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14
Q

genes and amino acids

A

ok basically amino acids are made from codons and genes are made up from a group of codons idk man

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15
Q

Single nucelotide polymorphic (SNP)

A
  • called pinpoint mutation
  • mutation is one nuclide of a gene sequence
  • normal nucleotide sequence may b ACTTG…but w this mutation, the sequence is ACTGG
  • so one point is fucked up
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16
Q

Defective gene

A

-ex: BRCA1, BRCA2 –>more likely to get breast cancer w these

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17
Q

Defective whole chromosome

A

-ex: trisomy 21, extra 21 chromosome–>down syndrome

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18
Q

Germ-cell mutation

A 
mutated gamete (sperm and ovum)
-can be inherited or sporadic
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19
Q

Somatic cell mutation

A

(occurring in body cells) is not inherited

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20
Q

mutations can be _____ or ______

A

inherited or sporadic (environmentally induced)

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21
Q

Labeling a gene

A
  • chromosome # or X/Y
  • long (lower) arm =q
  • short (upper) arm=p
  • Region (including band and subband if applicable)
  • EX:cystic fibrosis gene; 7q31.2 indicates the gene is found on the long arm of chromosome 7 in the region numbered 31.2
22
Q

Define Karyotype

A

appearance and number of chromosomes of an individual

-AKA an individuals “chromosome picture “

23
Q

explain the chromosomal makeup of the normal human karyotype

A
  • 46 chromatids=23 chromosomes
  • 22 pairs are somatic cell chromosomes (autosomes)
  • 23rd pair includes the sex chromosomes
  • Structure=2 chromatic strands connects by a centromere
  • Corresponding genes on each chromatid=an allele
24
Q

homozygous v. heterozygos alleles

A
  • Homozygous: both alleles on each corresponding chromosome are the same
  • Heterozygous: the alleles on corresponding chromosomes are not the same
25
Q

Dominant v Recessive traits

A

An allele can carry a dominant trait or recessive trait (brown eyes= dominant, blue eyes= recessive)

26
Q

Phenotype v Genotype

A
  • Phenotype: how the gene mix is manifested in the individual (a person has brown eyes)
  • Genotype: the genetic makeup of a person ( a brown eyed person can have a B-B or a B-b genotype)
27
Q

father

A

XY

28
Q

mother

A

XX

29
Q

Illustrate the pattern of inheritance for a sex-linked trait

A
  • A female often carries a trait the male offspring expresses
  • The Y chromosome (which is smaller) does not have an equal number of genes as the X chromosome
  • Some genes on the X chromosome are unopposed by an allele on the Y so what is on the X is expressed
30
Q

Penetrance and an example

A

ratio of how many persons with genotype have the phenotype; are the disorders symptoms clearly evident??

EX: a gene is highly penetrant if most people express a gene if they have it; if a woman has the BRCA gene, there is an 85% chance of getting breast cancer; this gene is highly penetrant

31
Q

Expressivity and an example

A

a disorder can be expressed more or less severely in different individuals

-EX: a person may have a gene for familial hypercholesterolemia but can have a mild or severe form of the disease

32
Q

Describe multifactorial inheritance

A
  • A disease is caused by a combination of inherited susceptibility and environmental factors that trigger a disorder
  • Diabetes or cancer are multifactorial genetic diseases; a genetic susceptibility and environmental triggers cause this disorder
33
Q

Discuss alterations in DNA, including an example

A
  • DNA can sometimes be repaired by the cell
  • ->Damaged nitrogen base can be replaced
  • DNA alterations or mutations are changes in nucleotide sequences, as well as deletions or insertions of nucleotides
  • These changes can represent the change of base sequences in a codon, leading to a change in the protein structure
  • EX: a nucleotide base substitution results in a different amino acid being included in hemoglobin formation, leading to the development of sickle cell anemia
34
Q

Explain the role of genetics in the cause and suppression of cancer including: Oncogenes

A
  • Activated oncogenes can be inherited or acquired
  • When the cell that possesses this activated oncogene undergoes transcription, the RNA will carry defective message of the activated oncogene onto to the ribosomes
  • The ribosomes will synthesize defective proteins called ONCOPROTEINS
  • These oncoproteins will direct the cell to undergo uncontrolled proliferation, persistent mitotic divisions, or persistent cancerous growth, which is why activated oncogenes can be considered cancer causing genes
35
Q

Explain the role of genetics in the cause and suppression of cancer including: Tumor suppressor genes

A
  • These genes inhibit uncontrolled cellular mitosis and lead to persistent proliferation
  • EX: p53 tumor suppressor gene, which stops the mitotic cell division cycle
  • When defective, tumor suppressor genes do not suppress cancerous transformation of cells and cancer growth occurs uninhibited

-

36
Q

Explain the role of genetics in the cause and suppression of cancer including: VIRUSES

A

-Another way that cancer occurs is through viral insertion of an oncogene

  • EX: HPV inserts its DNA into the DNA of cervix cells. When activated, this DNA stimulates the abnormal growth cycle associated with cancer cells
  • ->Additionally, it inhibits the action of p53
  • ->This is the mechanism for the development of cervical cancer from HPV infection
37
Q

Explain the role of genetics in the cause and suppression of cancer including: “KNUDSON’s “two hit” hypothesis:

A
  • pair of alleles make up an individuals genotype–> if one of the alley of a pair becomes damaged or mutated, the normal corresponding allele can counteract and stop the effect in most cases
  • ->the initial allelic mutation is the “first hit”
  • In Knudson’s investigation, he noticed that caner ONLY developed in persons who acquired a 2nd allelic mutation!!!!
  • People who developed cancer possessed a hereditary mutation on one allele and acquired a second mutation on their normal allele sometime in the course of their lifetime = second “hit”
38
Q

Aneuploidy

A

abnormal number of chromosomes

-EX: trisomy 21

39
Q

Translocation

A

occurs when a piece of one chromosome breaks off and attaches to another chromosome

40
Q

Deletion

A

is part of a chromosome or a sequence of DNA is lost during DNA replication

41
Q

Mosaic

A

occurs when there are cells with different numbers of chromosomes within the same individual
EX: some cells have 47. XXX and others have 45, X

42
Q

Explain the purpose of a Genograms

A

Genograms can be used in genetic research to identify traits that are passed from one generation to another.

43
Q

Cystic fibrosis

A
  • autosomal recessive, if both parents are carriers, 25% chance of having the condition
  • increased mucus in lungs and pancreas; significantly affects function of both
  • testing: newborn screening required in the US; genetic testing of parents if family history
44
Q

Marfan syndrome

A
  • autosomal dominant; 50% chance of child having condition if one parent is affected
  • connective tissue disorder; tall stature; heart structural abnormalities
  • genetic testing; family planning counseling if family history
45
Q

Tay Sachs disease

A
  • autosomal recessive, if both parents are carriers, 25% chance of child having condition
  • nervous system development affected; death often by age 3
  • prenatal diagnosis; genetic testing of parents if family history
46
Q

Turner Syndrome

A
  • chromosomal abnormality; complete or partially missing X chromosome in females
  • hypogonadism, short stature, webbing of neck, often unable to reproduce
  • prenatal diagnosis- amniocentesis or chorionic villus sampling
47
Q

klinefelter syndrome

A
  • chromosomal abnormality in males; 1 in 500-1000 males; 47XXY
  • lack of testes development, decreased cognitive development
  • prenatal diagnosis; many not be detected until adolescence
48
Q

Down Syndrome

A
  • most common chromosomal disorder in humans, trisomy 21; 1 in 800 live births; risk increases with maternal age
  • changes in facial structure, neurologic development issues, cardiac abnormalities
  • prenatal screening
49
Q

Fragile X syndrome

A
  • disorder of the X chromosome; 1 in 1500-1800 males and females respectively
  • affects neurological development
  • moleculer genetic testing to determine extent of X chromosome abnormality
50
Q

Huntington Disease

A
  • autosomal dominant; 50% chance of child having condition if one parent affected
  • neurological disorder with adult-onset;
  • genetic testing; condition may be passed onto offspring before parent displays characteristic associated with the condition

nursing patho (4 decks)

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