Chromosome Mutations

Question	Answer
Image: Telocentric_Chrm (image/png)	Telomeric Chromosome
Image: Submetacentric_Chrm (image/png)	Submetacentric Chromosome
Image: Acrocentric_Chrm (image/png)	Acrocentric Chromosomes
Image: Metacentric_Chrm (image/png)	Metacentric Chromosome
Karyotype	Set of chromosomes carried by an individual
Karypotyping Dyes	Different dyes have different base affinities- leading to distinctive bands for chromosome identification
Fluorescent Probes In Karyotyping	Specific for each chromosome
MBanding	Used to identify different areas, using more specific dye affinities
Image: Deletion_of_Genes (image/png)	Deletion Mutation
WolfHurchorn Syndrom	Loss of a Small region on the short arm of chromosome 4
Effects of Wolf-Hirschorn Syndrom	Variable expressivity & phenotypes
Haploinsufficiency	When an organsim only has a single functional copy of the gene
Effects of Haploinsufficiency	Can lead to expression of mutant (despite wild type originally being present) or insufficient production of wild type protein
Effects of Deletion of Meiosis	Unequal distances between alleles causes looping
Image: Deletion_Looping (image/png)	Looping caused by the deletion of genes
Pseudodominance	Where the inheritance of a recessive trait mimics that of a dominant trait- can be caused by deletion mutations
Deletion of Wild type	Can lead to expression of recessive mutant
Image: Duplication_of_Gene (image/png)	Tandem Duplication
Image: Displaced_Duplication (image/png)	Displaced Duplication
Image: Reverse_Duplication (image/png)	Reversed Duplication
Image: Dispaced_Reversed_Replication (image/png)	Displaced Reversed Duplication
Image: Duplication_Looping (image/png)	Duplication Looping
Effects of Duplication	Can lead to excision of duplicated/normal sequence, or loss of all genes in between duplications
Image: Duplication_Excision (image/png)	Duplication Excision
Image: NHCE (image/png)	Non-Allelic Chromosome Recombination
Willam Beuren Syndromr	Caused by N.A.C.R- causes duplication of 20 genes on 7q, deletion of them in the other
Chromosome Location = p	Short arm of chromosome
Chromosome Location = q	Long arm of chromosome
Image: Paracentric_Inversion (image/png)	Paracentric inversion
Image: Pericentric_Inversion (image/png)	Pericentric Inversion (Involves the centromere)
Effects of Inversion Points	Gene disruption/fusion at the loci
Position effects	Genes moved by an inversion can have their levels of expression altered- i.e. placed near a strong promoter
Loops and Cruciforms	Can be formed by inversion- leading to chromatid fusion & DNA excisions
Image: Reciprocal_Translocation (image/png)	Reciprocal Translocation
Image: Non-Reciprocal_Translocation (image/png)	Non-Reciprocal Translocation
Image: Robertsonial_Translocation (image/png)	Robertsonial Translocation
Requirements for R. Translocation	Acrocentric Chromosomes
Effects of Chromosome translocations	Leads to formation of crosslike structures
Image: Alternate_Segregation (image/png)	Alternate Segregation- only form that doesn't lose genes
Image: Adjacent_1___2_Segregation (image/png)	Adjacent 1/2 Segregation- causes loss of genes
Gene loss leads to	Loss of heterozygosity i.e. revealing recessive mutations

Image: Telocentric_Chrm (image/png)

Telomeric Chromosome

Image: Submetacentric_Chrm (image/png)

Submetacentric Chromosome

Image: Acrocentric_Chrm (image/png)

Acrocentric Chromosomes

Image: Metacentric_Chrm (image/png)

Metacentric Chromosome

Karyotype

Set of chromosomes carried by an individual

Karypotyping Dyes

Different dyes have different base affinities- leading to distinctive bands for chromosome identification

Fluorescent Probes In Karyotyping

Specific for each chromosome

MBanding

Used to identify different areas, using more specific dye affinities

Image: Deletion_of_Genes (image/png)

Deletion Mutation

WolfHurchorn Syndrom

Loss of a Small region on the short arm of chromosome 4

Effects of Wolf-Hirschorn Syndrom

Variable expressivity & phenotypes

Haploinsufficiency

When an organsim only has a single functional copy of the gene

Effects of Haploinsufficiency

Can lead to expression of mutant (despite wild type originally being present) or insufficient production of wild type protein

Effects of Deletion of Meiosis

Unequal distances between alleles causes looping

Image: Deletion_Looping (image/png)

Looping caused by the deletion of genes

Pseudodominance

Where the inheritance of a recessive trait mimics that of a dominant trait- can be caused by deletion mutations

Deletion of Wild type

Can lead to expression of recessive mutant

Image: Duplication_of_Gene (image/png)

Tandem Duplication

Image: Displaced_Duplication (image/png)

Displaced Duplication

Image: Reverse_Duplication (image/png)

Reversed Duplication

Image: Dispaced_Reversed_Replication (image/png)

Displaced Reversed Duplication

Image: Duplication_Looping (image/png)

Duplication Looping

Effects of Duplication

Can lead to excision of duplicated/normal sequence, or loss of all genes in between duplications

Image: Duplication_Excision (image/png)

Duplication Excision

Image: NHCE (image/png)

Non-Allelic Chromosome Recombination

Willam Beuren Syndromr

Caused by N.A.C.R- causes duplication of 20 genes on 7q, deletion of them in the other

Chromosome Location = p

Short arm of chromosome

Chromosome Location = q

Long arm of chromosome

Image: Paracentric_Inversion (image/png)

Paracentric inversion

Image: Pericentric_Inversion (image/png)

Pericentric Inversion (Involves the centromere)

Effects of Inversion Points

Gene disruption/fusion at the loci

Position effects

Genes moved by an inversion can have their levels of expression altered- i.e. placed near a strong promoter

Loops and Cruciforms

Can be formed by inversion- leading to chromatid fusion & DNA excisions

Image: Reciprocal_Translocation (image/png)

Reciprocal Translocation

Image: Non-Reciprocal_Translocation (image/png)

Non-Reciprocal Translocation

Image: Robertsonial_Translocation (image/png)

Robertsonial Translocation

Requirements for R. Translocation

Acrocentric Chromosomes

Effects of Chromosome translocations

Leads to formation of crosslike structures

Image: Alternate_Segregation (image/png)

Alternate Segregation- only form that doesn't lose genes

Image: Adjacent_1___2_Segregation (image/png)

Adjacent 1/2 Segregation- causes loss of genes

Gene loss leads to

Loss of heterozygosity i.e. revealing recessive mutations

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Chromosome Mutations

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	Created by gina_evans0312 over 10 years ago