Chromosome Mutations

Pregunta	Respuesta
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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	Creado por gina_evans0312 hace casi 11 años