Chromosomes and Genes
Edited by Dr. Mohammed Mohammed Nabil
Lecturer in faculty of Veterinary medicine Sphinx University
Chromosome: Tightly coiled
strands of DNA
●Form when cells divide
●Chromosomes created
for the new cells
●2 Parts:
○1) Chromatids: two
identical parts of a
chromosome
○2) Centromere:
Joins chromatids
together
Identifying chromosomes
Chromosomes can be identified by:
●Their size
●Their shape (the position of the
centromere)
NB Chromosomes are flexible
●Banding patterns produced by
specific stains (Giemsa)
Chromosomes are analysed by
organising them into a KARYOTYPE
© 2007 Paul Billiet ODWS
© Biologyreference.com
●Defined: Picture of an
individuals chromosomes
○Help identify sex &
chromosome defects
●First 22 pairs =
autosomes
●Size of final pair identifies
sex
○Same size: XX = female
○Different size: XY = male
●Normal human will have
46 chromosomes
KARYOTYPE
Numbers of chromosomes
● Constant for each cell in the body except sex cells which only have
half sets
● Constant throughout the life of an individual (you don’t lose or gain
chromosomes)
● Constant for all members of a species
○ Humans have 46 chromosomes
○ Chimpanzees have 48
○ Maize (corn) has 20
© 2007 Paul Billiet ODWS
●Diploid Cells = Cells with the full
set of chromosomes
○Paired chromosomes
●Half of our chromosomes come
from each parent (23 from each
parent)
●Somatic (non-sex) cells are
diploid
●Created by mitosis
●Ex: Skin, Muscle, Nerve, Blood
Cells
●Haploid Cells = Cells with ½
the total number of
chromosomes
●Gametes (sex cells) are the
only haploid cells
○Ex: Sperm, Egg, Pollen
●Created by meiosis
○Chromosome number
reduced by 1/2
How do humans get 46
chromosomes?
Haploid sperm cell (23) + Haploid egg cell (23) = Diploid zygote (46)
Chromosomes in eukaryotes and
prokaryotes are different
PROKARYOTES EUKARYOTES
single chromosome plus plasmids many chromosomes
circular chromosome linear chromosomes
made only of DNA made of chromatin, a nucleoprotein
(DNA coiled around histone proteins)
found in cytoplasm found in a nucleus
copies its chromosome and divides
immediately afterwards
copies chromosomes, then the cell
grows, then goes through mitosis to
organise chromosomes in two equal
groups
Chromosomes in eukaryotes
●Found in the nucleus
●Condensed and visible during cell division
●At the beginning of mitosis they can be seen to consist
of two threads (sister chromatids) joined by a
centromere
●The sister chromatids are identical copies
●During mitosis the sister chromatids separate and are
placed into two nuclei
© 2007 Paul Billiet ODWS
Image believed to be in the Public Domain
How many chromosomes are in brain
cells?
Remember…Brain cells are non-sex cells…
…Somatic cells are non-sex cells…
…Somatic cells are diploid…
…Diploid cells have the full set of
chromosomes
Answer = 46
What is the human haploid chromosome
number?
Remember…Haploid = half number of chromosomes
Answer = 23 chromosomes
How many chromosomes are in female egg
cells?
Remember…Egg cells are sex cells…
…Sex cells are gametes…
…Gamete cells are haploid…
…Haploid cells have ½ the set of
chromosomes
Answer = 23
What is the human diploid chromosome
number?
Remember…Diploid = total number of chromosomes
Answer = 46
What is the human gamete chromosome
number?
Remember…Gamete cells are sex cells…
…Sex cells are haploid…
…Haploid cells have ½ the set of
chromosomes
What is the human somatic chromosome
number?
Remember…Somatic cells are non-sex cells…
…Somatic cells are diploid…
…Diploid cells have the full set of
chromosomes
Answer = 46
Genes
 Genes
 biochemical units of heredity that make up the
chromosomes
 a segment of DNA capable of synthesizing a protein
 A gene is a locus (or region) of DNA that encodes a functional
RNA or protein product, and is the molecular unit of heredity.
[Some genetic traits are instantly visible, such as eye colour
or number of limbs, and some are not, such as blood type,
risk for specific diseases, or the thousands of basic
biochemical processes that comprise life.
 Genome
 the complete instructions for making an organism
 consisting of all the genetic material in its chromosomes
Genes
● Genes - are the basic units of heredity located on
chromosomes which contain threadlike strands of DNA.
● Egg and Sperm contain 23 chromosomes each.
Genes – Our Code for Life
 Chromosomes
 Strands of DNA
(deoxyribonucleic acid) that
carry genetic information;
located in the nucleus of every human
cell
 Humans: 46 chromosomes (23/23)
 Genes
 DNA segments; key functional
units in hereditary transmission
 Can be active (expressed) or inactive
Autosomes
Sex
Chromosomes
Genes & DNA- Parts of a Cell
Genes
● Like chromosomes, genes operate in pairs, with one gene in
each pair coming from each parent
○ Homozygous Condition
■ Paired genes are the same
○ Heterozygous Condition
■ Paired genes are different
■ In this case, one gene in the pair masks the other
Genes – Our Code for Life
● Genotype ‫للشخص‬ ‫الجيني‬ ‫التركيب‬
○ A person’s genetic makeup; determined at pregnancy and
fixed forever
● Phenotype
○ The ways in which a person’s genotype is manifested in
observable characteristics; may change over time
■ **Different genotypes can yield the same phenotype
■ **Genes are flexible
● Polygenic Inheritance‫الجينات‬ ‫متعدد‬
○ Characteristics that are influenced by more than one pair
of genes
Genotypes
●A gene for a particular character
or trait may exist in
two forms; one is
dominant (E) and the
other is recessive (e).
Dominant and Recessive Genes
●Dominant Genes
○ One gene overshadows the other.
●Recessive Gene
○The gene that is overshadowed by a dominant
gene.
Examples of Genotypes
●There are three basic genotypes for a particular
character:
○AA = homozygous dominant
○Aa = heterozygous
○aa = homozygous recessive
Phenotypes
●Phenotype is the physical
appearance or other
characteristic of an
organism as a result of the
interaction of its genotype
and the environment.
Some examples would be:
• Size
• Shape
• Color
Genetic & Chromosomal Problems
Chromosomal
deletion:
• when cells go
through meiosis,
portions of the
chromosome are
lost.
Chromosomal
inversion:
• when cells go
through meiosis,
parts of the
chromosome are
flipped.
Chromosomal
translocation:
• when cells go
through meiosis,
parts of the
chromosomes
stick together
and switch.
Chromosomal
non-disjunction:
• when cells go
through meiosis
the
chromosomes
don’t separate
correctly and
either too many
or not enough
are passed on.
Basics: Genes – Our Code for Life
● Genetic & Chromosomal Problems
○ Cystic Fibrosis
■Two recessive genes; respiratory & digestive tract
○ Sickle Cell Anemia
■Two recessive genes; blood disorder
○ Tay-Sachs Disorder
■Two recessive genes; fatal neurological disorder
○ Phenylketonuria
■Two recessive genes; difficulty digesting a certain amino
acid – phenylalanine
Basics: Genes – Our Code for Life
● Genetic & Chromosomal
Problems
○ Down Syndrome
■ Extra chromosome
(21st
pair)
○ Klinefelter’s Syndrome male
■ Extra X chromosome;
reduced masculine characteristics (e.g. enlarged breasts,
obesity, etc.)
○ Turner’s Syndrome female
■ Missing X chromosome (e.g. infertility, sexually
underdeveloped, etc.)
HERITABILITY: TWIN STUDIES
1- Identical or monozygotic twins, one
fertilized egg (ovum) splits and develops
into two babies with exactly the same
genetic information.
2- Fraternal or dizygotic twins, two eggs
(ova) are fertilized by two sperm and
produce two genetically unique children.
Dizygotic
Questions
● True or false :
1. In KARYOTYPE the Size of final pair identifies sex ( )
2. Diploid Cells are Cells with the full set of chromosomes ( )
3. Somatic (non-sex) cells are diploid ( )
4. Haploid Cells are Cells with ½ the total number of chromosomes ( )
5. Hershey & Chase experiments confirmed that DNA is a genetic material ( )
6. Gametes (sex cells) are the only haploid cells ( )
7. Diploid zygote are 46 chromosome ( )
8. The human gamete chromosome number are 23 ( )
9. Genetic information transmitted only by DNA ( )
10.DNA replication Occurs in S phase of cell cycle ( )
Complete the following sentence :
1. How many chromosomes are in brain cells…………….
2. How many chromosomes are in female egg cells………..
3. What is the human somatic chromosome number……………..
4. A gene for a particular character or trait may exist in two forms …………
● Write short notes in Genetic & Chromosomal Problems

lecture 1 chromosomes.pptx11111111111111

  • 1.
    Chromosomes and Genes Editedby Dr. Mohammed Mohammed Nabil Lecturer in faculty of Veterinary medicine Sphinx University
  • 2.
    Chromosome: Tightly coiled strandsof DNA ●Form when cells divide ●Chromosomes created for the new cells ●2 Parts: ○1) Chromatids: two identical parts of a chromosome ○2) Centromere: Joins chromatids together
  • 3.
    Identifying chromosomes Chromosomes canbe identified by: ●Their size ●Their shape (the position of the centromere) NB Chromosomes are flexible ●Banding patterns produced by specific stains (Giemsa) Chromosomes are analysed by organising them into a KARYOTYPE © 2007 Paul Billiet ODWS © Biologyreference.com
  • 4.
    ●Defined: Picture ofan individuals chromosomes ○Help identify sex & chromosome defects ●First 22 pairs = autosomes ●Size of final pair identifies sex ○Same size: XX = female ○Different size: XY = male ●Normal human will have 46 chromosomes KARYOTYPE
  • 5.
    Numbers of chromosomes ●Constant for each cell in the body except sex cells which only have half sets ● Constant throughout the life of an individual (you don’t lose or gain chromosomes) ● Constant for all members of a species ○ Humans have 46 chromosomes ○ Chimpanzees have 48 ○ Maize (corn) has 20 © 2007 Paul Billiet ODWS
  • 6.
    ●Diploid Cells =Cells with the full set of chromosomes ○Paired chromosomes ●Half of our chromosomes come from each parent (23 from each parent) ●Somatic (non-sex) cells are diploid ●Created by mitosis ●Ex: Skin, Muscle, Nerve, Blood Cells
  • 7.
    ●Haploid Cells =Cells with ½ the total number of chromosomes ●Gametes (sex cells) are the only haploid cells ○Ex: Sperm, Egg, Pollen ●Created by meiosis ○Chromosome number reduced by 1/2 How do humans get 46 chromosomes? Haploid sperm cell (23) + Haploid egg cell (23) = Diploid zygote (46)
  • 9.
    Chromosomes in eukaryotesand prokaryotes are different PROKARYOTES EUKARYOTES single chromosome plus plasmids many chromosomes circular chromosome linear chromosomes made only of DNA made of chromatin, a nucleoprotein (DNA coiled around histone proteins) found in cytoplasm found in a nucleus copies its chromosome and divides immediately afterwards copies chromosomes, then the cell grows, then goes through mitosis to organise chromosomes in two equal groups
  • 10.
    Chromosomes in eukaryotes ●Foundin the nucleus ●Condensed and visible during cell division ●At the beginning of mitosis they can be seen to consist of two threads (sister chromatids) joined by a centromere ●The sister chromatids are identical copies ●During mitosis the sister chromatids separate and are placed into two nuclei © 2007 Paul Billiet ODWS Image believed to be in the Public Domain
  • 11.
    How many chromosomesare in brain cells? Remember…Brain cells are non-sex cells… …Somatic cells are non-sex cells… …Somatic cells are diploid… …Diploid cells have the full set of chromosomes Answer = 46
  • 12.
    What is thehuman haploid chromosome number? Remember…Haploid = half number of chromosomes Answer = 23 chromosomes
  • 13.
    How many chromosomesare in female egg cells? Remember…Egg cells are sex cells… …Sex cells are gametes… …Gamete cells are haploid… …Haploid cells have ½ the set of chromosomes Answer = 23
  • 14.
    What is thehuman diploid chromosome number? Remember…Diploid = total number of chromosomes Answer = 46
  • 15.
    What is thehuman gamete chromosome number? Remember…Gamete cells are sex cells… …Sex cells are haploid… …Haploid cells have ½ the set of chromosomes
  • 16.
    What is thehuman somatic chromosome number? Remember…Somatic cells are non-sex cells… …Somatic cells are diploid… …Diploid cells have the full set of chromosomes Answer = 46
  • 17.
  • 18.
     Genes  biochemicalunits of heredity that make up the chromosomes  a segment of DNA capable of synthesizing a protein  A gene is a locus (or region) of DNA that encodes a functional RNA or protein product, and is the molecular unit of heredity. [Some genetic traits are instantly visible, such as eye colour or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that comprise life.  Genome  the complete instructions for making an organism  consisting of all the genetic material in its chromosomes
  • 19.
    Genes ● Genes -are the basic units of heredity located on chromosomes which contain threadlike strands of DNA. ● Egg and Sperm contain 23 chromosomes each.
  • 20.
    Genes – OurCode for Life  Chromosomes  Strands of DNA (deoxyribonucleic acid) that carry genetic information; located in the nucleus of every human cell  Humans: 46 chromosomes (23/23)  Genes  DNA segments; key functional units in hereditary transmission  Can be active (expressed) or inactive Autosomes Sex Chromosomes
  • 21.
    Genes & DNA-Parts of a Cell
  • 22.
    Genes ● Like chromosomes,genes operate in pairs, with one gene in each pair coming from each parent ○ Homozygous Condition ■ Paired genes are the same ○ Heterozygous Condition ■ Paired genes are different ■ In this case, one gene in the pair masks the other
  • 23.
    Genes – OurCode for Life ● Genotype ‫للشخص‬ ‫الجيني‬ ‫التركيب‬ ○ A person’s genetic makeup; determined at pregnancy and fixed forever ● Phenotype ○ The ways in which a person’s genotype is manifested in observable characteristics; may change over time ■ **Different genotypes can yield the same phenotype ■ **Genes are flexible ● Polygenic Inheritance‫الجينات‬ ‫متعدد‬ ○ Characteristics that are influenced by more than one pair of genes
  • 24.
    Genotypes ●A gene fora particular character or trait may exist in two forms; one is dominant (E) and the other is recessive (e).
  • 25.
    Dominant and RecessiveGenes ●Dominant Genes ○ One gene overshadows the other. ●Recessive Gene ○The gene that is overshadowed by a dominant gene.
  • 26.
    Examples of Genotypes ●Thereare three basic genotypes for a particular character: ○AA = homozygous dominant ○Aa = heterozygous ○aa = homozygous recessive
  • 27.
    Phenotypes ●Phenotype is thephysical appearance or other characteristic of an organism as a result of the interaction of its genotype and the environment. Some examples would be: • Size • Shape • Color
  • 28.
    Genetic & ChromosomalProblems Chromosomal deletion: • when cells go through meiosis, portions of the chromosome are lost. Chromosomal inversion: • when cells go through meiosis, parts of the chromosome are flipped. Chromosomal translocation: • when cells go through meiosis, parts of the chromosomes stick together and switch. Chromosomal non-disjunction: • when cells go through meiosis the chromosomes don’t separate correctly and either too many or not enough are passed on.
  • 29.
    Basics: Genes –Our Code for Life ● Genetic & Chromosomal Problems ○ Cystic Fibrosis ■Two recessive genes; respiratory & digestive tract ○ Sickle Cell Anemia ■Two recessive genes; blood disorder ○ Tay-Sachs Disorder ■Two recessive genes; fatal neurological disorder ○ Phenylketonuria ■Two recessive genes; difficulty digesting a certain amino acid – phenylalanine
  • 30.
    Basics: Genes –Our Code for Life ● Genetic & Chromosomal Problems ○ Down Syndrome ■ Extra chromosome (21st pair) ○ Klinefelter’s Syndrome male ■ Extra X chromosome; reduced masculine characteristics (e.g. enlarged breasts, obesity, etc.) ○ Turner’s Syndrome female ■ Missing X chromosome (e.g. infertility, sexually underdeveloped, etc.)
  • 31.
  • 32.
    1- Identical ormonozygotic twins, one fertilized egg (ovum) splits and develops into two babies with exactly the same genetic information. 2- Fraternal or dizygotic twins, two eggs (ova) are fertilized by two sperm and produce two genetically unique children. Dizygotic
  • 33.
    Questions ● True orfalse : 1. In KARYOTYPE the Size of final pair identifies sex ( ) 2. Diploid Cells are Cells with the full set of chromosomes ( ) 3. Somatic (non-sex) cells are diploid ( ) 4. Haploid Cells are Cells with ½ the total number of chromosomes ( ) 5. Hershey & Chase experiments confirmed that DNA is a genetic material ( ) 6. Gametes (sex cells) are the only haploid cells ( ) 7. Diploid zygote are 46 chromosome ( ) 8. The human gamete chromosome number are 23 ( ) 9. Genetic information transmitted only by DNA ( ) 10.DNA replication Occurs in S phase of cell cycle ( )
  • 34.
    Complete the followingsentence : 1. How many chromosomes are in brain cells……………. 2. How many chromosomes are in female egg cells……….. 3. What is the human somatic chromosome number…………….. 4. A gene for a particular character or trait may exist in two forms ………… ● Write short notes in Genetic & Chromosomal Problems

Editor's Notes

  • #17 Genes biochemical units of heredity that make up the chromosomes a segment of DNA capable of synthesizing a protein Genome the complete instructions for making an organism consisting of all the genetic material in its chromosomes A gene is a locus (or region) of DNA that encodes a functional RNA or protein product, and is the molecular unit of heredity.[1][2]:Glossary The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. Most biological traits are under the influence of polygenes (many different genes) as well as the gene–environment interactions. Some genetic traits are instantly visible, such as eye colour or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that comprise life. Genes can acquire mutations in their sequence, leading to different variants, known as alleles, in the population. These alleles encode slightly different versions of a protein, which cause different phenotype traits. Colloquial usage of the term "having a gene" (e.g., "good genes," "hair colour gene") typically refers to having a different allele of the gene. Genes evolve due to natural selection or survival of the fittest of the alleles. The concept of a gene continues to be refined as new phenomena are discovered.[3] For example, regulatory regions of a gene can be far removed from its coding regions, and coding regions can be split into several exons. Some viruses store their genome in RNA instead of DNA and some gene products are functional non-coding RNAs. Therefore, a broad, modern working definition of a gene is any discrete locus of heritable, genomic sequence which affect an organism's traits by being expressed as a functional product or by regulation of gene expression.[4][5]
  • #21 Chromosomes threadlike structures made of DNA that contain the genes DNA (deoxyribonucleic acid) complex molecule containing the genetic information that makes up the chromosomes has two strands-forming a “double helix”--held together by bonds between pairs of nucleotides James Watson and Francis Crick are given credit for developing the three-dimensional structural model of DNA used today. However, they were not the first to ask the question, “How is hereditary information carried from one generation to the next?” or “How does it work?” Throughout history, our understanding of science changes as small modifications are made to what is known. Each discovery makes it possible for the next step in our understanding of scientific concepts to occur. The Watson and Crick model of DNA would not