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Chromosomal Mutations: Causes, Types, and Impact on Genetic Structure

Learn about chromosomal aberrations, including deletions, translocations, inversions, and duplications, and their effects on genes and cell division in this educational material. Explore the consequences of chromosomal mutations in meiosis and fertilization processes. Understand how anomalies in chromosomes can lead to sterility and abnormal zygote development.

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Chromosomal Mutations: Causes, Types, and Impact on Genetic Structure

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  1. CHROMOSOMAL MUTATIONS Výukový materiál GE 02 - 59 Tvůrce: Mgr. Šárka Vopěnková Tvůrce anglické verze: ThMgr. Ing. Jiří Foller Projekt: S anglickým jazykem do dalších předmětů Registrační číslo: CZ.1.07/1.1.36/03.0005 Tento projekt je spolufinancován ESF a SR ČR 2014

  2. chromosomal aberations • they do not change genes like that • they change the structure of chromosomes • change in the extension of hundred genes • they can be observed by light microscope • significantly bigger extension of • phenotypical changes • breaking of chromosome occur CHROMOSOMAL MUTATIONS

  3. they arise after: • breaking of a chromosome • breaking of a chromatid • following reconnection • or the loss of the broken section CHROMOSOMAL MUTATIONS

  4. deficiency – loss of the fragment between two breaks on the chromosome arm • after short deletions can occur connection; so called chromosomal ring • translocation = transpose of a chromosome part on another chromosome • after break of the end sections of two different chromosomes and after reciprocal exchange – reciprocal translocation CHROMOSOMAL MUTATIONS

  5. deletion = loss of an internal chromosome part • inversion= reverse of a chromosome section • duplication = doubling of a chromosome part • fragmentation = break-up of a chromosome into more parts CHROMOSOMAL MUTATIONS

  6. CHROMOSOMAL ABERATIONS

  7. in contrast to gene mutations chromosomal mutations (aberrations) can be an obstacle in normal process of meiosis • gametes are sterile • zygotes not vital CHROMOSOMAL MUTATIONS

  8. in contrast to gene mutations chromosomal mutations can be an obstacle in normal process of cell division • chromosome without a centromere cannot connect to the dividing spindle > it disappears CHROMOSOMAL MUTATIONS

  9. chromosomal mutations are an obstacle in normal process of meiotic division • by meiosis it disables synapsis • abnormal gametes arise • after fertilization defect zygotes arise CHROMOSOMAL MUTATIONS

  10. chromosomal mutations arise relatively often • it occurs at about 5 % zygotes arisen by fertilization of gametes carrying chromosomal mutations • defect zygotes though mainly die at the beginning of embryonal development CHROMOSOMAL MUTATIONS

  11. WORKSHEET DESCRIBE THE PICTURE

  12. WORKSHEET DESCRIBE THE PICTURE

  13. CHALUPOVÁ-KARLOVSKÁ, Vlastimila. Obecná biologie: středoškolská učebnice : evoluce, biologie buňky, genetika : s 558 řešenými testovými otázkami. 2., opr. vyd. Olomouc: Nakladatelství Olomouc, 2010, 206 s. ISBN 978-80-7182-282-0 SOURCES

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