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