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CNUR 803 > Chapter 2 Genes and Genetic Disease > Flashcards

Chapter 2 Genes and Genetic Disease Flashcards

1
Q

What are silent mutations and give an example

A

Mutations that don’t have any effect on the final product ex base pair substitution

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2
Q

What is base pair substitiution

A

When one base replaces another

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3
Q

Missense mutations

A

Produces a change in a single amino acid

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4
Q

Nonsense mutations

A

Produces a premature stop codon in the mrna and terminate the translation the polypeptide

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5
Q

Frameshift Mutation

A

Involves adding or taking mutations that are not multiples of three

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6
Q

What are the differences between DNA and RNA

A

RNA has ribose
DNA has deoxyribose
Uracil found only in RNA
RNA only exists as a single strand

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7
Q

What is mRNA

A

Genes are copied onto mRNA and these genes are like instructions with what proteins should be built

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8
Q

What is Transcription

A

Transcription is basically when a DNA strand is copied the only exception is the uracil instead of thymine

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9
Q

How do Genes become proteins

A

Through transcription and translation

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10
Q

What is the process of transcription

A

RNA polymerase binds to a promoter site (A sequence that specifies the beginning of a gene) and separates a portion of the DNA. One strand is a template while the other strand is copied until it reaches the termination sequence

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11
Q

What are introns

A

Removed mRNA sequences

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12
Q

What are exons

A

Present mRNA sequences that codes for proteins

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13
Q

What is translation

A

TRNA binds to a ribosome at the P site of the the ribosome then an anticodon binds at the a site. Then TRNA and MRNA are bound together and a chain is made until it reaches the stop codon

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14
Q

What does TRNA do

A

Take amino acids to the ribosome

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15
Q

What are somatic cells

A

All cells asides from gametes they have 46 chromosomes one from one other from dad. They are also diploid

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16
Q

What are Gametes

A

Those are haploid cell they have a total of 23 chromosomes and they are sex cells

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17
Q

Where do haploid cells come from

A

Diploid cells through the process of meiosis

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18
Q

Cells with multiple number of chromosomes are

A

Euploid Cells

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19
Q

What is a polyphoid cell

A

They are euploid cells with a more than the diploid number of chromosomes

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20
Q

What is triploid

A

A zygote with three copies of each chromosome instead of the usual 2 (69 chromosomes in total)

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21
Q

What is aneuploidy

A

A cell that does not contain a multiple of 23 chromosomes

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22
Q

What is trisomic

A

A cell containing 3 copies of one chromosome

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23
Q

What is monosomy

A

The presence of only one copy of a given chromosome in a diploid cellW

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24
Q

What is nondisjunction

A

When homologous chromosomes or sister chromatids fail to separate normaly during. meiosis or mitosis

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25
What is partial trisomy
When an extra portion of a chromosome is present in each cell
26
What is trisomy X
Instead of having 2 x chromosomes these females have 3 x chromosomes
27
Signs and symptoms of trisomy x
These women generally have no overt physical abnomalties although sterility, menstrual irreglarality, or intellectual disability can be present pg 47
28
What is turners syndrome
When you have a total of 45 chromsomes
29
What us Klinefelter's syndrome
When you have an XXY
30
Signs and symptoms of Turnery syndrome
IQ is usually the same, only found in females shot stature is typically normal
31
What is kliifelters syndrome S&s
Moderate mental impairment is noticed males are generally sterile with a high pitched voice and breasts pg 47
32
What is a deletion
They occur when a broken chromesome and DNA is lost. With this deletion the remaining chromosome binds to another gamete to from a zygote
33
Cri du chat syndrome
Occurs due to deletions and has a characteristic cry with intellectual disability, microcephaly and heart defects
34
What are inversions in chromosomes
When two breaks occurs in a chromosome followed by reinsertion of the missing fragment at its original site but its inverted order
35
What are translocations
The interchange of genetic material between nonhomologus chromsomes
36
What is reciprocal translocation
When breaks take place in2 different choromsomes and the matter is exchanged
37
What are the effects of translocations
Nothing in the immediate sense but their offspring might require insertions or deletions
38
What is robertsoinian translocaition
It is when the Long arms of 2 nonhomologuolours chromosomes fuse at the centromere forming a single chromosome
39
What is fragile x syndrome
More noticed in males since males only have one x chromosome. But it id when the chromosomal regions are susceptible to gaps or breaks it is second most common cause of intellectual dissability
40
Polymorphic
A locus that occurs that has 2 or more alleles that occur with an appreciable frequency in a population
41
The composition of genes at a given locus
Genotype (The Manuel)
42
What is the principle of independent assortment
States that the hereditary transmission of one gene does not affect the transmission of another
43
What is the principle of segregation
States that the homologous genes separate from one another during reporoduction and that each reproductive cells carries only one copy of a homologous gene
44
Huntingotons disease differentiating characteristic
It is usually not seen to the age of 40
45
Beckwihtwiederman syndrome
When imprinting is lost 2 active copies of igf2 causes exesss fetal growth
46
Prader willi syndrome
Caused by the detain of he long arm of the chromosome which when inherited from the father (Short stature obesity hypognaism)
47
Angelman syndrome
Intellectuall disability, seizures and ataxic gait occurs when the same deletion is inherited from the mother
48
Autosomal Recessive
(Autosomal) - Occurs in non sex characteristic chromsomes (Recesive)two copies of the mutated gene (one from each parent) are required to cause the disorder.
49
Consanguinity
Incest
50
Characterisitics of x linked inheritance
The trait is seen much more in males than females The trait is never transmitted from father to son The gene can be transmitted through a series of carrier females The gene is passed from an affected father to all his daughters Ex duchesses muscular dystrophy
51
What are polygenic traits
When several genes act together
52
What is a codon
A sequence of 3 nitrogenous bases ex (ATG)
53
What is a gene
Segment of DNA that is the basic unit of inheritance
54
What is an autosome
Chromosome that is not a sex hormone
54
What is a chromosome
Strand of condensed chromatin visible right before cell division
55
What is an allele
Different versions of a paired gene
56
Give the 4 examples of single genes
Autosomal dominant, autosomal recessive, or X-Linked recessive, or X linked dominant
57
X - linked recessive disease are seen more in which gender
Males
58
What is more harmful a duplication or a deletion
Deletoin
59
What is a Barr body
An inactivated X chromosome that is seen in normal females

CNUR 803 (12 decks)

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