M3: Gene & Chromosomal Mutations Flashcards by Gabriel De Guzman

Alteration in the DNA sequence

Any base-pair change in the DNA MOLECULE

Gene Mutation

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Basis of Classifying Gene Mutation

Cause
Location
Molecular Change
Phenotypic Effects

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Types of Mutations Based on Cause

Spontaneous
Induced

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Based on Cause

Results from the occasional errors during DNA Replication

*Very low mutation rate

*Occurs without external intervention

Spontaneous

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Based on Cause

Using Mutagens (Biological-Transposons, Chemical-Base analogs, & Physical-UV Radiation)

*Induced by humans
*High mutation rate

Induced

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Types of Mutations Based on Location

Somatic
Germ Line
Autosomal
Sex Chromosome
Coding Regions
Non-coding Regions

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Based on Location

May result to altered cellular functions of the tumor

*Not heritable

*Ex: Non-reproductive Cells

Somatic Mutation

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Based on Location

Heritable

Ex: Reproductive Cells

Germ Line Mutation

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Based on Location

Mutations within genes located on the chromosomes not related to sex

Autosomal Mutation

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Based on Location

Ex:
* X-linked mutation
* Y-linked mutation

Sex Chromosome Mutation

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Based on Location

Regulatory sequences

Ex: Introns

Non-coding region of the gene

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Based on Location

Ex: Exons

Coding Region of the Gene

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How can DNA mutation can be fixed?

DNA Repair Mechanism

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Existence of Gene Mutation

Permanent

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Based on Cause

A possible source of spontaneous gene mutation

DNA Polymerase

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Based on Location

An example of non-coding region for mutation

Cis-Acting Elements

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Types of Mutation based on Molecular Change

Frameshift
Rearrangement
Base Substitution

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Based on Molecular Change

Point Mutation

Replacement of one base by another base

Base Substitution

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Purine to Purine Substitution

Transition

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Purine to Pyrimidine Substitution

Transversion

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Effects of Base Substitution

Silent Mutation
Non-sense Mutation
Missense Mutation

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Base substitution effects

No effect on the resulting protein

Silent Mutation

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Base Substition Effect

Results to a stop codon

Nonsense mutation

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Base Substitution Effect

Results to a faulty protein

Missense Mutation

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Addition or deletion of nucleotides | * Most prevalent at repeated sequence * No effect if adds/deletes units

Frameshift

Types of Framshift

* Reading frame, +1 * Reading frame, -1

Deletion or Addition of large number of nucleotides

Rearrangement

Types of Rearrangement

* Large segment inserted * Large segment deleted

# Rearrangement Effect Truncated protein

Large segment deleted

# Rearrangement Effect Proteins with partial or no activity

Large segment added

Types of Mutation based on Phenotypic Effects

* Loss of Function * Null * Visible * Nutruitional Vitamin * Biochemical * Behavioral * Regulatory * Lethal * Conditional * Neutral

# Mutation Type based on Phenotypic Effect Reduce or eliminate the function of the gene product

Loss of function

# Mutation Type based on Phenotypic Effect Complete loss of function

Null

# Mutation Type based on Phenotypic Effect Altered morphological trait

Visible

# Mutation type based on Phenotypic Effect Inability to synthesize amino acid or vitamin

Vitamin

# Mutation based on Phenotypic Effect Altered metabolic activities

Biochemical

# Mutation based on Phenotypic Effect Altered behavior

Behavioral

# Mutation based on Phenotypic Effect Inaapropriately activate or deactivate gene expression

Regulatory

# Mutation based on Phenotypic Effect Affects survival

Lethal

# Mutation based on Phenotypic Effect Environment-dependent

Conditional

# Mutation based on Phenotypic Effect Negligible

Neutral

Passed to Offsping in a predictable manner | Chromosome abberation

Chromosome mutation

Two classes of Chromosome mutation

* Variation based on chromosome number * Variation based on chromosome structire and arrangement

Variations in chromosome number

* Aneuploidy * Euploidy

Organism gains or loses one or more chromosome | Imbalance in number of chromosome

Aneuploidy

# Aneuploidy Error in meiosis | * Paired homologs failed in segregation * Disrupts normal distribution

Non-disjunction

Human conditions due to Aneuploidy

* Down syndrome * Klinefelter syndrome * Patau syndrome * Turner syndrome

# Human condition with Aneuploidy Only condition that wereable to survive more than a year | 47, 21+

Down Syndrome

# Human condition with Aneuploidy Male with female attributes | 47, XXY

Klinefelter Syndrome

# Human condition with Aneuploidy Offspring with cleft lips | 47, 13+

Patau Syndrome

# Human condition with Aneuploidy Female with male traits | 45, X

Turner Syndrome

Presence of complete haploid set of chromosome

Euploidy

Well known in lizards, amphibians, fish, and plant species

Polyploidy

Chromosome are identical to normal haploid complacent of the same species | Addition of one or more extra set of chromosome

Autopolyploidy

Combination of chromosome sets from different species | Due to hybridization

Allopolyploidy

Allotetraploids that originate from from original species | Exihbit traits from both parents

Amphidiploid

Condition where certain cells are polyploid | Chromomsome replicate without nuclear division

Endopolyploidy

Variation in Chromosome Structure and Arrangement

* Insertion * Deletion * Inversion * Translocation

Chromosome breaks in one or more place, and loses its portion | Defiency

Deletion

Types of Deletion

1. Terminal 2. Intercalary

# Type of Deletion Deletion occurs at one end of chromosome

Terminal Deletion

# Type of Deletion Deletion occurs within the chromosome

Intercalary

Sporadic loss of chromosomal material in gametes | * 46, XY, 5p- * Segmental Deletion

Cri-du-chat Syndrome

Any part of the genetic material is present more than once in the genome

Duplication

Source of genetic variability during evolution

* Gene Redunduncy * Phenotypic Variation

Duplication error in synapsed chromosome

Duplication error in meiosis

Duplication as replication error

Duplication error in mitosis

Segment of chromosome turned around 180 degrees | Break at two points and insertion

Inversion

# Inversion Inversion inculding centromere

Pericentric inversion

# Inversion Inversion not inculding centromere

Paracentric inversion

Movement of chromosomal segment to a new part of the genome | Occurs between non-homologous chromosomes

Translocation

# Types of Translocation Equal balance exchange

Reciprocal Translocation

# Types of Translocation Uneven Exchange

Non-reciprocal Translocation

Syndrome that affects more family members than expected

Familial Syndrome

M3: Gene & Chromosomal Mutations Flashcards

(74 cards)