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GENETICS: DNA,
INHERITANCE AND
GENIC DISEASES
COMPLILED BY: SITHEMBISO BRIDGET NXUMALO
(201122793)
GENETICS
• Field of Biology that studies how
characteristics are transferred
from parent to offspring
• Begins, chronologically, with the
work of Austrian monk Gregor
Johann Mendel in the 1850-60s.
• by mrjurkiewicz on Nov 29, 2010
MENDEL: EDUCATION
• In fact, Mendel was a welleducated scientist
• Studied physics and
mathematics at the
Olmütz Philosophical
Institute at the University
of Vienna, beginning in
1851
• by mrjurkiewicz on Nov
29, 2010
MENDEL: LEGACY

• by mrjurkiewicz on Nov 29,
2010
LOCATION OF DNA IN
A CELL

• Chromatin is a complex of DNA and
protein, and is found in the nucleus
of eukaryotic cells.
• Histones are proteins that are
responsible for the first level of DNA
packing in chromatin
• The chromatin network in the
nucleus of a cell will coil up tightly
during cell division and form
individual chromosomes.
• Chromosomes are always
duplicated during this process (2
sets of identical genetic information to
ensure each cell receives identical
genetic info to the parent cell during
cell division).
• A duplicated chromosome consists
of 2 chromatids attached to each
other by a centromere.
• Each chromatid consists of several
genes.
• Genes consists of a long DNA strand.
LOCATION OF DNA IN
A CELL

Locus: Position of gene on chromos
A DNA double helix structure
INHERITANCE
is the process in which traits are passed
from parents to offspring

is the study of heredity
CHARACTERS OR TRAITS ARE RESEMBLANCES OR
DIFFERENCES WHICH CAN BE:
Seen e.g.
eye colour
flower colour

Tested for e.g.
blood groups
colour blindness
LET’S REVISE:
• Genes:
 control the characteristics of living organisms
 are carried on the chromosomes
• Chromosomes are in pairs, one from each parent
• Genes are in pairs
• Genes controlling the same characteristics occupy identical positions on
corresponding chromosomes

• The gene pairs control one characteristic

gene for
eye colour

gene for
nose shape

gene for
making insulin
The genes of a corresponding
pair are called alleles

Alleles are alternative
forms of the same gene

Gene

Homologous chromosomes have the same
length and carry the same gene sequences
GENETIC DISEASES
MUTATIONS

• A mutation is a change in a gene
• A mutation can only be inherited in it occurs in a sex cell
• Effects of mutations can be:
•

Positive

•

Negative

•

Neutral
CHROMOSOME MUTATIONS
.Deletion – loss of a piece of a chromosome
. Translocation – a piece of one chromosome
breaks off and reattaches to a nonhomologous
chromosome
Nondisjunction – chromosome fails to
separate from its homologue during meiosis
GENE MUTATIONS

• Point Mutation – one nucleotide is changed in the DNA sequence
•

Substitution

•

Deletion

•

Insertion
GENE MUTATIONS
• Insertion – one or more
nucleotides are added to a gene

• Substitution – one nucleotide
replaces another
GENETICAL TERMINOLOGIES
• Genes – parts of chromosomes (DNA) that control
specific characteristics
MOLECULAR GENETICS

• How many of each type of
chromosome does a cell have?
• TWO! (Chromosomes
come in pairs.)
VOCABULARY
• Alleles – several
alternate forms of a
gene that cause
different traits
• Example: one allele may
cause blonde hair, while
another causes black
ALLELES

• Organisms ALWAYS have
two alleles (one on each
chromosome)
• Alleles can be either
dominant or recessive
ALLELES
• Letters are used to represent alleles

• Capital letters = dominant genes
• Lowercase letters = recessive genes
ALLELES

• Example: short hair is
dominant over hairless
in dogs
• Short hair: H
• Hairless: h
ALLELES

• Since organisms have two of each
type of chromosome (with one
allele on each), genes must be
represented by two letters
• Examples: HH, Hh, or hh
ALLELES
• Dominant alleles mask
recessive
• HH – 2 dom.
• Hh – 1 dom., 1 rec.
• hh – 2 rec.
ALLELES
• Dominant alleles mask recessive

• HH – dominant trait
•

Short hair

• Hh – dominant trait
•

Short Hair

• hh – recessive trait
•

Hairless
GENETICAL TERMINOLOGIES:
• Homozygous – two of the
same alleles
• Homozygous dominant - two
dominant alleles
• Homozygous recessive – two
recessive alleles
VOCABULARY

• Heterozygous – two
different alleles
• Usually one is dominant
and one is recessive
EXAMPLE

• Long necks in giraffes are
dominant to short necks (N
and n)
• Genes vs. displayed trait
GENETICAL TERMINOLOGIES:

• Genotype – genetic makeup of
an individual (example: Nn or
nn)
• Phenotype – observed
characteristics (example: long
or short neck)
REFERENCE LIST:
Campbell, J. & Recee, C. (2010). Biology: Genetics. (8th edition). Peason: Benjiam Publishers.
Mjnap. (11 months). geneticdiseasespresentation-130311073210-phpapp01.pptx
http://s3.amazonaws.com/ppt-download/geneticdiseasespresentation-130311073210phpapp01.pptx?response-contentdisposition=attachment&Signature=xy7W%2BzyjqBXGmoN92xhDYiv98nY%3D&Expires=139
4099263&AWSAccessKeyId=AKIAIW74DRRRQSO4NIKA. Accessed: 06/03/2014
SECBIO. (5months). genetics-130907092527-.pptxhttp://s3.amazonaws.com/pptdownload/genetics-130907092527-.pptx?response-content-disp. Accesed : 06/03/2014.
SPITZECA. (2011). geneticspresentationsuggestededits-110831055527-phpapp02
(1).pptxhttp://s3.amazonaws.com/ppt-download/geneticspresentationsuggestededits110831055527-phpapp02.pptx?response-contentdisposition=attachment&Signature=SUVNHZLSIXe6lQJp%2BjDafYz8HPE%3D&Expires=13940
99134&AWSAccessKeyId=AKIAIW74DRRRQSO4NIKA. ACCESSED: 06/03/2014

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Fundamentals of genetics

  • 1. GENETICS: DNA, INHERITANCE AND GENIC DISEASES COMPLILED BY: SITHEMBISO BRIDGET NXUMALO (201122793)
  • 2. GENETICS • Field of Biology that studies how characteristics are transferred from parent to offspring • Begins, chronologically, with the work of Austrian monk Gregor Johann Mendel in the 1850-60s. • by mrjurkiewicz on Nov 29, 2010
  • 3. MENDEL: EDUCATION • In fact, Mendel was a welleducated scientist • Studied physics and mathematics at the Olmütz Philosophical Institute at the University of Vienna, beginning in 1851 • by mrjurkiewicz on Nov 29, 2010
  • 4. MENDEL: LEGACY • by mrjurkiewicz on Nov 29, 2010
  • 5. LOCATION OF DNA IN A CELL • Chromatin is a complex of DNA and protein, and is found in the nucleus of eukaryotic cells. • Histones are proteins that are responsible for the first level of DNA packing in chromatin • The chromatin network in the nucleus of a cell will coil up tightly during cell division and form individual chromosomes.
  • 6. • Chromosomes are always duplicated during this process (2 sets of identical genetic information to ensure each cell receives identical genetic info to the parent cell during cell division). • A duplicated chromosome consists of 2 chromatids attached to each other by a centromere. • Each chromatid consists of several genes. • Genes consists of a long DNA strand.
  • 7. LOCATION OF DNA IN A CELL Locus: Position of gene on chromos
  • 8. A DNA double helix structure
  • 10. is the process in which traits are passed from parents to offspring is the study of heredity
  • 11. CHARACTERS OR TRAITS ARE RESEMBLANCES OR DIFFERENCES WHICH CAN BE: Seen e.g. eye colour flower colour Tested for e.g. blood groups colour blindness
  • 12. LET’S REVISE: • Genes:  control the characteristics of living organisms  are carried on the chromosomes
  • 13. • Chromosomes are in pairs, one from each parent
  • 14. • Genes are in pairs • Genes controlling the same characteristics occupy identical positions on corresponding chromosomes • The gene pairs control one characteristic gene for eye colour gene for nose shape gene for making insulin
  • 15. The genes of a corresponding pair are called alleles Alleles are alternative forms of the same gene Gene Homologous chromosomes have the same length and carry the same gene sequences
  • 17. MUTATIONS • A mutation is a change in a gene • A mutation can only be inherited in it occurs in a sex cell • Effects of mutations can be: • Positive • Negative • Neutral
  • 18. CHROMOSOME MUTATIONS .Deletion – loss of a piece of a chromosome . Translocation – a piece of one chromosome breaks off and reattaches to a nonhomologous chromosome Nondisjunction – chromosome fails to separate from its homologue during meiosis
  • 19. GENE MUTATIONS • Point Mutation – one nucleotide is changed in the DNA sequence • Substitution • Deletion • Insertion
  • 20. GENE MUTATIONS • Insertion – one or more nucleotides are added to a gene • Substitution – one nucleotide replaces another
  • 21. GENETICAL TERMINOLOGIES • Genes – parts of chromosomes (DNA) that control specific characteristics
  • 22. MOLECULAR GENETICS • How many of each type of chromosome does a cell have? • TWO! (Chromosomes come in pairs.)
  • 23. VOCABULARY • Alleles – several alternate forms of a gene that cause different traits • Example: one allele may cause blonde hair, while another causes black
  • 24. ALLELES • Organisms ALWAYS have two alleles (one on each chromosome) • Alleles can be either dominant or recessive
  • 25. ALLELES • Letters are used to represent alleles • Capital letters = dominant genes • Lowercase letters = recessive genes
  • 26. ALLELES • Example: short hair is dominant over hairless in dogs • Short hair: H • Hairless: h
  • 27. ALLELES • Since organisms have two of each type of chromosome (with one allele on each), genes must be represented by two letters • Examples: HH, Hh, or hh
  • 28. ALLELES • Dominant alleles mask recessive • HH – 2 dom. • Hh – 1 dom., 1 rec. • hh – 2 rec.
  • 29. ALLELES • Dominant alleles mask recessive • HH – dominant trait • Short hair • Hh – dominant trait • Short Hair • hh – recessive trait • Hairless
  • 30. GENETICAL TERMINOLOGIES: • Homozygous – two of the same alleles • Homozygous dominant - two dominant alleles • Homozygous recessive – two recessive alleles
  • 31. VOCABULARY • Heterozygous – two different alleles • Usually one is dominant and one is recessive
  • 32. EXAMPLE • Long necks in giraffes are dominant to short necks (N and n) • Genes vs. displayed trait
  • 33. GENETICAL TERMINOLOGIES: • Genotype – genetic makeup of an individual (example: Nn or nn) • Phenotype – observed characteristics (example: long or short neck)
  • 34. REFERENCE LIST: Campbell, J. & Recee, C. (2010). Biology: Genetics. (8th edition). Peason: Benjiam Publishers. Mjnap. (11 months). geneticdiseasespresentation-130311073210-phpapp01.pptx http://s3.amazonaws.com/ppt-download/geneticdiseasespresentation-130311073210phpapp01.pptx?response-contentdisposition=attachment&Signature=xy7W%2BzyjqBXGmoN92xhDYiv98nY%3D&Expires=139 4099263&AWSAccessKeyId=AKIAIW74DRRRQSO4NIKA. Accessed: 06/03/2014 SECBIO. (5months). genetics-130907092527-.pptxhttp://s3.amazonaws.com/pptdownload/genetics-130907092527-.pptx?response-content-disp. Accesed : 06/03/2014. SPITZECA. (2011). geneticspresentationsuggestededits-110831055527-phpapp02 (1).pptxhttp://s3.amazonaws.com/ppt-download/geneticspresentationsuggestededits110831055527-phpapp02.pptx?response-contentdisposition=attachment&Signature=SUVNHZLSIXe6lQJp%2BjDafYz8HPE%3D&Expires=13940 99134&AWSAccessKeyId=AKIAIW74DRRRQSO4NIKA. ACCESSED: 06/03/2014