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Genetic Enviromental
factors factors
Sexual
Mutation
Reproduction
Chromosomal Gene
Alteration in base
sequence of DNA, hence
Changes in structure can be changing the GENETIC
due to deletion, CODE AND ORDER OF
duplication,inversion and ACID AMINO for protein
translocation. synthesis.
Types of Chromosomal Mutation That
Changes Chromosome Structure
Types of Chromosomal
Mutation That Changes
Chromosome Structure
Deletion
A fragment of chromosome breaks off and is
lost.
Types of Chromosomal
Mutation
Duplication
A fragment of chromosome is
doubled/repeated. The new chromosome has
extra genetic material.
Types of Chromosomal
Mutation
Duplication
Types of Chromosomal
Mutation
INVERSION
Types of Chromosomal
Mutation
INVERSION
A fragment of chromosome is removed.
The fragment rotates through 180 and is
inserted back at same location.
Types of Chromosomal
Mutation
Translocation
A fragment of chromosome breaks off and
then attaches to another chromosome.
Types of Chromosomal
Mutation
Types of Chromosomal Mutation That
Changes Number of Chromosome
Types of Chromosomal
Mutation
Change in no of chromosomes
Occur when homologous chromosome fail to
separate during meiosis.
Causes addition or loss of chromosomes in the
gametes.
Also known as : Non-disjunction
Non disjunction of sex chromosome can re
Types of Chromosomal
Mutation
Non-disjunction
Non disjunction of sex chromosome can
cause a sperm cell either having both X and Y
chromosomes or no sex chromosome.
Or can cause an ovum either having two X
chromosome or having no chromosomes.
Types of Chromosomal
Mutation
Non-disjunction
.
Types of Chromosomal
Mutation
Non-disjunction
.
Types of Chromosomal
Mutation
Non-disjunction
Types of Chromosomal
Mutation
Effect of Non-disjunction
Disease No of Chromosome involved characteristic
chromoso
me
Downs 47 (45+ Extra chromosome on Can be female or male.
Syndrome XX or chromosome 21 (trisomy Learning disabilities, heart
45+XY) 21) defects, susceptible to
infection, short, broad face
and slanted eyes.
Turner 45 (44+ Absence of one sex Female. Sterile and lack of
Syndrome XO) chromosome secondary sexual
characteristics.
Klinefelters 47 ( 44+ An extra X chromosome Male. Low fertility, smaller
Syndrome XXY) testes and some breast
enlargement
Types of Chromosomal
Mutation
Effect of Non-disjunction
Disease No of Chromosome involved characteristic
chromoso
me
Patau 47,13 Extra chromosome on Small eyes, malformed
Syndrome chromosome 13 (trisomy nose, cleft lip or cleft
13) palate, extra fingers or
toes, mentally retarded
and deaf, heart and kidney
failure
Edward 47,18 Absence of one sex Mental retardation,severe
Syndrome chromosome growth retardation,
malformed digestive tract,
urinary tracts and genitals.
GENE MUTATION
Gene Mutation
Is a change in the base of sequence of DNA.
Five different types:
a) Duplication- portion of nucleotide chain is
repeated.
b) Addition- extra nucleotide sequence is
inserted into the chain
c) Inversion- a nucleotide separates from chain,
inverse and rejoin at its original place.
Gene Mutation
d) Deletion portion of nucleotidechain is totally
removed from the chain