Uutta ja ajankohtaista
- Etelämantereelta on kuvattu erikoisen värinen keisaripingviini. Kyseessä on geenimutaatio, joka vaikuttaa höyhenten väriaineen, melaniinin kertymiseen vaaleille alueilla. Kyseessä on ns. melanistinen yksilö.
BBC America; Julkaistu 13.2.2019
Perimä voi muuttua monella eri tavalla.
Netistä (OpenStax- materiaali artikkelin lopussa)
- General&Human Biology:Genetics; Chromosomes
- General&Human Biology:Genetics; DNA
- General&Human Biology:Genetics; Protein Synthesis
- Learn. Genetics; What is Mutation?
- Tokyo Medical University Genetics
- http://www.ygyh.org/ Your Genes, Your Health
- DNA from the Beginning; Mutations are changes in genetic information
- DNA from the Beginning; Some types of mutations are automatically repaired
- Khan Academy; Genetic mutations
- Moth Mutation Explains Classic Example of Evolution | Wired Science | Wired.com
- http://bcs.whfreeman.com; Genetic Mutations Simulation
- Miksi harvinainen sairaus vie pienen lapsen? Vastaus voi löytyä geeneistä. | Tiede | yle.fi 10.03.2014
- Geenimutaatio tuottaa blondeja | National Geographic
Geenimutaatiot ja pistemutaatiot
Pistemutaation tapahtumatavat ja seuraukset; Download for free at http://cnx.org/contents/e42bd376-624b-4c0f-972f-e0c57998e765@6.1.; Creative Commons Attribution License 4.0 license.
Esimerkki:
- Sirppisoluanemia
Kromosomimutaatiot
Deletion;By Mirmillon at fr.wikipedia [Public domain], from Wikimedia Commons
- häviämä (deleetio)
- siirtymä (translokaatio)
- kahdentuma (duplikaatio)
- kääntymä (inversio)
Kromosomistomutaatiot
- yksittäistä kromosomia poikkeva määrä (ei siis 2)
- monosomia: on vain toinen vastinkromosomi
- trisomia: kromosomia on 3 kappaletta
- Downin syndrooma
Kromosomien epänormaali asettuminen meioosin I tai II keskivaiheessa johtaa sukusoluissa siihen, että yksi kromosomi puuttuu (n-1) tai samaa kromosomia on kolme (n+1); Download for free at http://cnx.org/contents/e42bd376-624b-4c0f-972f-e0c57998e765@6.1.; Creative Commons Attribution License 4.0 license.
Down Syndrome Karyotype. from en: with same file name; By Courtesy: National Human Genome Research Institute (Human Genome Project) [Public domain], via Wikimedia Commons
- Kromosomisto moninkertaistunut – polyploidia
Seuraavissa OpenStax- materiaaleissa on osittain samoja sisältöjä ja kuvia
- 11.5 Mutations
- Figure 11.18Mutations can lead to changes in the protein sequence encoded by the DNA.
- Figure 11.20 (a) 2-aminopurine nucleoside (2AP) structurally is a nucleoside analog to adenine nucleoside, whereas 5-bromouracil …
- Figure 11.21 Intercalating agents, such as acridine, introduce atypical spacing between base pairs, resulting in DNA polymerase introducing either a deletion or an insertion, leading to a potential frameshift mutation.
- Figure 11.22 (a) Ionizing radiation may lead to the formation of single-stranded and double-stranded breaks in the sugar-phosphate backbone of DNA
- Figure 11.23 Bacteria have two mechanisms for repairing thymine dimers
- Figure 11.24 Identification of auxotrophic mutants, like histidine auxotrophs, is done using replica plating
- Figure 11.25 The Ames test is used to identify mutagenic, potentially carcinogenic chemicals
- 13.2 Chromosomal Basis of Inherited Disorders
- Figure 1. This karyotype is of a female human
- Figure 2. Nondisjunction occurs when homologous chromosomes or sister chromatids fail to separate during meiosis, resulting in an abnormal chromosome number
- Figure 3. The incidence of having a fetus with trisomy 21 increases dramatically with maternal age
- Figure 7. Pericentric inversions include the centromere, and paracentric inversions do not.
- Figure 8. When one chromosome undergoes an inversion but the other does not, one chromosome must form an inverted loop to retain point-for-point interaction during synapsis
- Figure 9. A reciprocal translocation occurs when a segment of DNA is transferred from one chromosome to another, nonhomologous chromosome.
- 14.6 DNA Repair
