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miyuki kawamura

on 8 October 2012

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Transcript of Mutation

Mutation Mutations are linked directly to evolution of human.
It is clear that mutations are simply change in DNA and easily leading to many genetic disease. Conclution (Lewin, B., 2006) "Any change that is made in the sequence of a genome from one generation to the next is called a mutation" Definition Point (cc) photo by theaucitron on Flickr Structural Numbers change Inversion Translocations Deletions Duplications Aneuploidy Euploidy Louise
Stella Types An extra or missing number of chromosome Trisomy wild-type + 1 chromosome (2n+1) Small-scale
(Point mutation) Spontaneous Induced Segment/ a part of chromosome become double or repeat. Reciprocal translocation: Point mutation can be divided into 4 types:

1. Silent mutation

2. Nonsense mutation

3. Missense mutation

4. Frame shift mutation Substitution transversion ->
purine are substituted for pyrimidine Adenine to Cytosine,
Cytosine to Guanine,
Guanine to Thymine,
Thymine to Adenine modification Insertion and Deletion transition ->
purine is substituted with other purine
pyrimidine is substituted with other pyrimidine Adenine to Guanine
Thymine to cytosine Insertion is an addition
of a nitrogen base Deletion is the subtraction
of a nitrogen base. does not affect the amino acid being translated. substitution of the base nitrogen
changes the type of amino acid being formed. substitution of the nitrogen base results in tRNA translating it as a stop codon and will cease to translate anymore codons. a base nitrogen is deleted/inserted Every piece of two chromosomes break off and exchange (reciprocate). Long and short arms of two different acrocentric chromosomes merged with themselves. United short arms disappear; just two different long arms merged their centromeric areas. Result from the abnormal fusion of two chromosome pieces, each of which includes a centromere. These structures are unstable and often involve a loss of some genetic material. Paracentric:

Pericentric: two breakings at both long and short arms, including centomere break off at either long or short arms, not including centomere A chromosome segment disappears after it is broken off and causes an unbalance. Centric translocation (Robertsonian): Dicentric translocation: Example : TTC -> AAG -> Lysine
TTT -> AAA -> Lysine
Lysine -> AAG or AAA Example : TTC -> AAG -> Lysine
TTT -> AAA -> Arginine Example : TTC -> AAG -> Lysine
ATC -> UAG -> stop Example: mRNA strand -> AUG CGA UUA UAC GGG
met arg leu tyr gly

insertion of Uracil:
met arg leu leu arg Duplication of the numbers of total chromosome caused by nondisjunction
in meiosis I or II Edwards Syndrome (46+1, XY/XX) lives in short period of time
more girls than boys
risk increases as women get older
broad abnormality (brain, heart, craniofacial structures, kidney, stomach) Triple X Syndrome (46, XXX) chromosome number 11 Located at Codon no 6 Sickle cell anaemia Mutation Protein affected: Beta Globin chain of hemaglobin Large-scale
(chromosomal) Structural Monosomy wildtype - 1 chromosome unbalanced balanced Ring Chromosome The ends of a chromosome join together to form a ring as the result of a loss of genetic material from both ends of the chromosome. Papillary Thyroid Carcinoma inversion of chromosome 8p22 Burkitt Lymphoma translocation between chromosome 8q and 14q Rubinstein-Taybi syndrome deletion of chromosome 16p13 Charcot-Marie-Tooth duplication of chromosome 1q23.3 Chromosomal Structural Diseases turner syndrome (46,XO) 1 of 2,500 baby girl born with this syndrome
Treatment with estrogen and progesterone ensure a harmonious development, puberty, and normal sex life. Affected 1 of 1,000 female
Increased risk of learning disabilities and delayed development of speech and language skills.
Delayed development of motor skills tautomer
slipped strand misparing chemicals
radiation No numbers change no numbers change numbers change Structural
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