Chromosome Mutations


Year 2 Flashcards on Chromosome Mutations, created by gina_evans0312 on 16/12/2013.
Flashcards by gina_evans0312, updated more than 1 year ago
Created by gina_evans0312 about 10 years ago

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Question Answer
Telomeric Chromosome
Submetacentric Chromosome
Acrocentric Chromosomes
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
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
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
Tandem Duplication
Displaced Duplication
Reversed Duplication
Displaced Reversed Duplication
Duplication Looping
Effects of Duplication Can lead to excision of duplicated/normal sequence, or loss of all genes in between duplications
Duplication Excision
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
Paracentric inversion
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
Reciprocal Translocation
Non-Reciprocal Translocation
Robertsonial Translocation
Requirements for R. Translocation Acrocentric Chromosomes
Effects of Chromosome translocations Leads to formation of crosslike structures
Alternate Segregation- only form that doesn't lose genes
Adjacent 1/2 Segregation- causes loss of genes
Gene loss leads to Loss of heterozygosity i.e. revealing recessive mutations
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Complimentation Tests & Epistasis
Copy Number Variation
Telomeres and Genetic Stability
Alleles and Complimentation- Definitions
Chromosomal Abberations and Repair
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