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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
Q

What is partial trisomy

A

When an extra portion of a chromosome is present in each cell

26
Q

What is trisomy X

A

Instead of having 2 x chromosomes these females have 3 x chromosomes

27
Q

Signs and symptoms of trisomy x

A

These women generally have no overt physical abnomalties although sterility, menstrual irreglarality, or intellectual disability can be present pg 47

28
Q

What is turners syndrome

A

When you have a total of 45 chromsomes

29
Q

What us Klinefelter’s syndrome

A

When you have an XXY

30
Q

Signs and symptoms of Turnery syndrome

A

IQ is usually the same, only found in females shot stature is typically normal

31
Q

What is kliifelters syndrome S&s

A

Moderate mental impairment is noticed males are generally sterile with a high pitched voice and breasts pg 47

32
Q

What is a deletion

A

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
Q

Cri du chat syndrome

A

Occurs due to deletions and has a characteristic cry with intellectual disability, microcephaly and heart defects

34
Q

What are inversions in chromosomes

A

When two breaks occurs in a chromosome followed by reinsertion of the missing fragment at its original site but its inverted order

35
Q

What are translocations

A

The interchange of genetic material between nonhomologus chromsomes

36
Q

What is reciprocal translocation

A

When breaks take place in2 different choromsomes and the matter is exchanged

37
Q

What are the effects of translocations

A

Nothing in the immediate sense but their offspring might require insertions or deletions

38
Q

What is robertsoinian translocaition

A

It is when the Long arms of 2 nonhomologuolours chromosomes fuse at the centromere forming a single chromosome

39
Q

What is fragile x syndrome

A

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
Q

Polymorphic

A

A locus that occurs that has 2 or more alleles that occur with an appreciable frequency in a population

41
Q

The composition of genes at a given locus

A

Genotype (The Manuel)

42
Q

What is the principle of independent assortment

A

States that the hereditary transmission of one gene does not affect the transmission of another

43
Q

What is the principle of segregation

A

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
Q

Huntingotons disease differentiating characteristic

A

It is usually not seen to the age of 40

45
Q

Beckwihtwiederman syndrome

A

When imprinting is lost 2 active copies of igf2 causes exesss fetal growth

46
Q

Prader willi syndrome

A

Caused by the detain of he long arm of the chromosome which when inherited from the father (Short stature obesity hypognaism)

47
Q

Angelman syndrome

A

Intellectuall disability, seizures and ataxic gait occurs when the same deletion is inherited from the mother

48
Q

Autosomal Recessive

A

(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
Q

Consanguinity

A

Incest

50
Q

Characterisitics of x linked inheritance

A

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
Q

What are polygenic traits

A

When several genes act together

52
Q

What is a codon

A

A sequence of 3 nitrogenous bases ex (ATG)

53
Q

What is a gene

A

Segment of DNA that is the basic unit of inheritance

54
Q

What is an autosome

A

Chromosome that is not a sex hormone

54
Q

What is a chromosome

A

Strand of condensed chromatin visible right before cell division

55
Q

What is an allele

A

Different versions of a paired gene

56
Q

Give the 4 examples of single genes

A

Autosomal dominant, autosomal recessive, or X-Linked recessive, or X linked dominant

57
Q

X - linked recessive disease are seen more in which gender

A

Males

58
Q

What is more harmful a duplication or a deletion

A

Deletoin

59
Q

What is a Barr body

A

An inactivated X chromosome that is seen in normal females

CNUR 803 (12 decks)

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