Chromosome & DNA

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Chromosome Composition of chromosome Gene

·Thread like bodies ·40% DNA
·Chromatin during interphase ·60% Protein
·[Link] waldayer® ·5cm long, 140 Nucleotide
proposed name (chromosome) -ve charge by phosphate Background Modern Concept Where gene seside Structure of Gene
colored bodies. ·Strong affinity for +ve histone Darwin® Pangenesis · Mendel® elementen of ·
On chromosome ·Promoter® 5¢, regulatory area
·Prokaryotes® Single DNA (H1, H2A H2B,H3, H4) gemmules in gonads factors now called ·
Allele (Alternate control binding of mRNA
molecules is called as are transmitted to genes, form) ·Terminate or- 3¢, stop transcription
chromosome. ·S-Phase® DNA and histone
disorganized & DNA replicated offspring,related by Now gene is specific e.g A B ·Structural Region between promoter
Number of chromosome & organized again. Galton through sequence of DNA that I® I ,I ,i on & terminator that code polypeptide
·Vary in species experiment encode specific sequence Chromosome 9 ·Eukaryote -exon(functional)
·Two set® Diploid ·10mm® Nucleosome string
·Devries® Pengene of amino acid entron (non functional)
®

More than 2® polyploid (not migrate) ·Prokaryote no exon & intron,

·30nm (solenoid) G1,G2 Phase
Haploid® half of somatic ·Mendel® Unit of Regulated by same area called
®

Haploid may be mono,Dip inheritance operon

200nm Supercoiling ·Johansson®
·Fern® 500 pair
®

·Penicillin® one pair Introduce gene

700nm® again coiling
Structure:- ·[Link]® coined
Euchromatin (expressed)
Chromatid, centromere genetics for evolution,
Heterochromatin (Condersed
secondary constriction variation heredity
always & not expressed)
stelellite, Junk DNA
·Telomere
·Metacentric (centromere at Chromosome theory Parallel Behavior of gene & chromosome
of inheritance ·Both segregate during Meiosis
center)
·Telocentric (at end) ·Genes® unit of in heritance, ·Both assort independently of
chromosomes as carrier of heredity any other pair during anaphase
·Submetacentric (away from
·Karl correns® Rediscovery of Mendel ·Diploid cell gave two copies
center)
work 1900 but no supportive idea of both gene & chromosomes
·Acrocentric (near end)
·Walter Sutton & Theodor Boveri®
Behavior of mendal factor is parallel
to chromosome
Sperm® less cytoplasm & only contribute
on Nucleus, unit must reside in nucleus
·Linkage discovered by [Link] (1910)
 Page # 2 Chromosome & DNA
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DNA as a heredity Material DNA Replication

Chromosome® DNA+Pretein,
which is involved in inheritance
Self synthesis of DNA occur in S-phase parent
Griffith Avery Chase DNA form two daughter DNA
Experiment Experiment Experiment Models

Semi conservative Conservative Dispersive Meselson experiment

Process of Replication ·Watson & Crick ·Parental DNA is dispersed ·[Link] & [Link] in 1958
·DNA unzipped ·
Doughtier DNA formed ·New DNA is mixture of old & ·Semi conservative Model
·New DNA is mixture ·
Parental DNA is conserved new pregnant confirmation
Initiation Phase Extension phase of Parent & doughtier ·
Parent DNA remain intact Process 15
·Replication fork & bubble at · Done by polymerase enzyme DNA hybrid ·Bacteria® N medium then
14
origin of Replication · RNA primase build primer transferred to N medium
·DNA gyrase® open turn of (align nucletide act as start
·Sample were taken at 0, 20,
DNA & form a ladder like site of polymerase)
40 mins
body polymerase III)
·Sample were centrifuged
Helicase® Break base bonds · Dimer need primer at High speed using cscl2.
SSB® Prevent pair up again · 5¢® 3¢end
·0min® heaviest® bottom
of base · Prof reading ability
·20min® between 0min &
Single strand® act as a template · Both units are joined by
control
Replication fork his formed polypeptide
·40min® one at top & other at
· Leading strand® grow Termination Phase intermediate level
continuously toward fork ·Replacement of primer by DNA Resalts
· Lagging strand away from fork & Joining of okazaki fragment 15
·0 min® both® N
· Okazaki fragment are Polymerase
14 15
needed (100-200 base pairs ·Polymerase I ·
20 min®
both®
1N & 1N
in prokaryotes) Exonuclease
14 14
· Grow discontinuously ·Remove the primer & Replace it ·
40 min®
N&N
14 15
· More primers needed with DNA N& N
Polymerase I -termination ·Attached to 3¢end of okazaki &
& support DNA polymorease III 5¢end of primer
Polymerase II- Reparing of DNA ·DNA ligase: DNA Joining at
Damage in cell okazaki fragments
Polymerase III-main enzyme synthesize
both daughter stand
 Chromosome & DNA
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Gene expression Translation

·2nd stage of gene expression
·mRNA® protein sequence
·Bacteria® cytoplasm where ribosomal
Central dogma Transcription Post-Transcriptional Genetic code units are located
Mechanism of gene expression Process of mRNA formation by help Modification of mRNA Sequence of DNA/RNA that ·Eukaryotes® Ribosome of RER
·mRNA formation & Translation of RNA polymerase. ·mRNA® mature needed in Eukaryotes encode specific sequence of Process
because mRNA travel a long distance amino acid
may be damaged by nucleus & phosphates · Coding / sense strand
·Cap® 7methyl GTP at 5¢ ® 5¢ ·Also called codon
·Tail (poly A 30-500) 3¢
® 3
¢end ·A, G, C, T Activation of AA Initiation complex
Initiation Phase Elongation Phase Termination stop ·RNA splicing entron (non coding ·Codon specify mRNA & Biting of AA on tRNA & Ribosomal subunit+
mRNA synthesis area) are removed from mRNA Amino Acid form Aminoacyl tRNA mRNA+Aminoacyl tRNA
·Polymerase bind at ·Sigma factor released
promoter (regulatory ·Core enzyme do elongation · GC base pair followed called RNA splicing ·3 letters , 64 possible codons complex ·tRNA® bind to smaller
Site) towards 5¢ end ·5¢® 3¢ by AT pairs on DNA AUG® Start ·Catalyzed by aminoacyle sub unit catalyzed by
·prokaryote® -10 ·Extend till terminator comes ·GC hair pin formed UAA, UGA, UAG® non sense tRNA synthase inrtion factor
TTATAAT ·Template strand called till AU comes codon ·AA are continuously activated · 5¢ end of mRNA also
antisense other is called as · Elongation stopped ·Sense codon® encode bind to Ribosome by
TTGACA ® -35 initiation factor.
coding or sense strand ·Many AA are coded by
·E ukaryote TATA ·Completed when large
more than 1 codon
(-25) CAAT (-70) ·Leucine® 6 subunit placed upon
·Name due to position of ·Pregnancy, Redundancy smaller subunit
polymerase at before ·Universal ·Psite® 1 st tRNA complex
initiation site Arginine (bacteria) attach, peptide bond is
·RNA polymerase® beta, bete’ AGA formed between AA
sigma (Binding) UGA Stop ·A site® tRNA attached
·Beta+beta’ (Core enzyme) Tryptophan ·E site® empty tRNA’s
·’
5’® 3 No Primers needed (mitochondria) leave Ribosome
·Prokaryote ® one types
·Eukaryote
I-rRNA Polypeptide elongation Termination
II-mRNA Ribosomal unit move along mRNA, · Elongation continue till non sense
III-tRNA AA brought by tRNA are joined by codon is exposed at A site.
·DNA unwind & transcription bubble appear. polypeptide 3 step · Stop codon® release factor that
·Anticodon of tRNA attach with terminate the translocation &
codon of mRNA at A site by elongation polypeptide is released from tRNA
factor. · tRNA released from Ribosome &
·Peptidyle Transferase---P site join coming · Ribosomal units are separated
amino acid.
·Sub unit move along mRNA from 5¢ ® 3¢
new codon exposed (translocation)
tRNA leave by E site (A® P® E)
·Process is repeated
 Chromosome & DNA
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Regulation of gene expression Mutation

Importance Gene Regulation Lac operon Introduction Origin of Mutations Types of Mutation
·Increase versatility & adaptabilityMethods ·Positive Regulation obtain energy ·Permanent change in DNA ·Heredity mutation inherited Spontaneous-occur
·Drive cellular differentiations ·Positive Regulation from b -glactosides (lactose) ·Single Nucleotide® from parents, present in every naturally & automatically
& morphogenisis expression is increased Chromosome caused by cell. by internal factors
·Genes are clustered on operon that regulate
·Different cell type have different by activator radiation, viruses transposoms, · De-novo:- occur just after ·Induced mutation, by
catabolism of substrate from outside
gene expression ·Negative regulation mutagen & error in meiosis fertilization, effect every cell, external mutations
(lac-operon) synthesis of AA (trp-operon)
expression is diminished · Agent called mutages & but no family history ·Point mutation: involve
by repress. ·RNA® polycistronic® Multiple
protein from single transcript organism in which mutation · Acquired/somatic:- occurs few bases
c = Repressor of operon o c c u r c a l l e d m u t a n t in lifetime, caused by ·Chromosomal mutation
z=b -glactosidase (hydrolysis of lactose) ·Some mutation are rare, if environmental factors such as involve,change number
y = Permease (increase Permeability of cell) occur in more then 1% of UV cannot be passed to new of chromosome
a = transacetylase (transfer acetyl group) population called polymorphism offspring.
from Acetyl CoA® b-glactosidase) · Polymorphism® sometime
risk the health

Point Mutation Abberations

Deletion® Removal of Bases
Insertion® addition of Bases
Substituion® Replacement of Bases

Deletion Inversion Translocation Duplication Euploidy Aneuploidy

Removal of segment Part of chromosome Break & Shifting of chromosome on non Repetition (loss or addition (addition / loss of
of chromosome Join is different manner Homologous of genes in of set of chromosome chromosome)
chromosomes Triploidy (3sets) Monosomy (2n-1)
Tetraploidy (4sets) Nullisomy (2n-2)
Pentaploidy (5 sets) Trisomy (2n+1)
Hexaploidy (6 sets) Tetrasomy (2n+2)
 Features Sickle Cell Anemia (Drepanocytosis) Phenylketonuria
Chromosome & DNA Introduction Sickle-cell anaemia is an autosomal (PKU) is rare condition in which a baby is
recessive genetic blood disorder characterized born without the ability to properly break
abnormal, rigid, sickly shape red blood cells down an amino acid called
Types of Mutagens resulting in decreased flexibility. Hence RBCs phenylalanine which is needed in body’s
get stuck more easily in small blood vessels, production of melanin, the pigment
and break into pieces that interrupt healthy responsible for skin and hair color. It is an
blood flow. autosomal recessive trait.
Physical Chemical Signs and Signs and symptoms usually begin in early Infants with the condition often have
Short wave radiation ·Mustard gas, formalin, nitrous acid childhood. It includes a low number of red lighter skin, hair, and eyes than brothers
Discovered by H.T Muller 5-bromouracil, caffine, nicotine
Symptoms
blood cells (anemia), repeated infections, and and sisters without the disease. A “mousy”
X-Ray, Gamma, UV ·Ist discovered mustard gas used in 1st periodic episodes of pain, shortness of breath, or “musty” odor may be detected on the
Cosmic rays world war fatigue, and delayed growth and development breath and skin and in urine. The unusual
·Break chromosome in children. The rapid breakdown of red blood odor is due to a buildup of phenylalanine
·Cause cancer substances in the body.
causes jaundice.
·Effect Replication Other symptoms may include: delayed
Painful episodes (called crises), which can last
from hours to days. These crises can affect the mental and social skills, head size
bones of the back, the long bones, and the significantly below normal, hyperactivity,
chest. jerking movements of the arms or legs,
mental retardation, skin rashes, tremors,
and unusual positioning of hands.
Cause & Risk HbS which encode defective â globin chain is An enzyme called phenylalanine
Factor originated from HbA (normal haemoglobin hydroxylase, is missing which is needed to
gene) due to a point mutation. It results in break down an essential amino acid called
abnormal haemoglobin. The patients inherit phenylalanine
two such alleles from both parents. Without the enzyme, levels of
Carriers do not show signs and symptoms. phenylalanine and two closely-related
Sickle cell disease is much more common in substances build up in the body. These
people of African and Mediterranean descent substances are harmful to the central
nervous system and cause brain damage
Treatment The goal of treatment is to manage and control Treatment involves diet that is extremely
symptoms, and to limit the number of crises. low in phenylalanine, particularly when
Folic acid supplements should be taken. Folic the child is growing. Phenylalanine occurs
acid is needed to give regularly to prevent in significant amounts in milk, eggs, and
stroke, pain medicines, plenty of fluids. other common foods.
Other treatments of sickle cell anemia may The artificial sweetener Nutra Sweet
include: hydroxyurea (Hydrea), a medicine that (aspartame) also contains phenylalanine.
may help reduce the number of pain episodes A special infant formula called Lofenalac
(including chest pain and difficulty breathing) can be used as a protein source that is
Antibiotics to present bacterial infections in extremely low in phenylalanine and
child with sickle cell anemia balanced for the remaining essential amino
acids
Features Down’s syndrome Klinefilter’s syndrome Turner’s syndrome Causes & Autosomal non- Non-disjunctionof sex Sex chromosomal non-
Introduction It is characterized by the Klinefilter’s syndrome (also Turner’s syndrome is riskfactor disjunctionresulting chromosome during oogenesis disjunctionduring
presence of an extra copy called XXY syndrome) is a chromosomal disorder
of 21st chromosome. So condition in which human which is characterize
gamete with24 inmothers. oogenesis inresulting
these individuals males have an extra X by the missing of one chromosomes. These persons inherit two X in nullogamete
generally have 47 chromosome. Klinefelter X chromosome (44 + It’s incidence 1per 800 chromosome frommother and production
chromosomes (2n + 1). syndrome does not occur in X). births beforetheageof a Ychromosomefromfather, It occurs in about 1in
females 30, morecommonwith sotheyhavesex chromosome 2,500female births
Sign and These include: As babies, many XXY males Short stature, Non-
Á flattened face and nose, a have weak muscles and functioning ovaries, No
older parents For trisomy(XXY). worldwide, but is much
Symptoms
short neck, a small reduced strength. They may sit estrogen and example, a womenhas It affects 1in 500to1,000 more common among
sometimes with a large, up, crawl, and walk later than progesterone riskof Downsyndrome males; most variants of pregnancies that do not
protruding tongue, small other infants. production so no upto about 1in350 by Klinefelter syndrome are survivetoterm
ears, upward slanting eyes, Less testosterone production. menstruation or breasts age35. By40the risk much rarer, occurringin1in (miscarriages and
small skin folds at the inner This can lead to a taller, less development, have
corner (epicanthic fold) and muscular body, less facial and normal other genitalia rises to about 1in 100 50,000 or fewer malebirths. stillbirths)
inner corner of the eyes may body hair, and broader hips so pregnancy with Treatment No specific treatment Testosterone replacement Treatments include:
be rounded instead of than other body. donor embryos may be available some measures therapy(TRT todevelopmore Growthhormone
pointed. As teens, XXY males may possible. include like: masculine appearanceand injections are
White spots may be present have larger breasts, weaker In early childhood,
Corrective surgeryfor identity, deepen the voice, and beneficial toincrease
on iris. The hands are short bones, and a lower energy frequent middle ear
and broad with short level than other boys. They infections. Recurrent heart defects, growfacial andbody hair. final adult height bya
fingers, and with a single tend to quiet and shy. infections can lead to gastrointestinal Educational service and fewinches.
crease in the palm. By adulthood, XXY males hearing loss in some irregularities, regular physical speech and Estrogen &
Poor muscle tone and loose look similar to males although cases. healthcheckups toscreen occupational therebymayalso progesterone
ligaments are also common; they are often taller. XXY Normal intelligence
and developmental males can have normal sex with good verbal skills
for other conditions such increasetheir confidencelevel replacement therapy
milestones are not reached. lives, with little or no sperm. and reading skills. as visual impairments, ear can helpin breast
Between 95 percent and 99 Some have problems infections, haringloss, development andstart
percent of XXY males are with mathematics, hypothyroidism, obesity of menstruationwhich
infertile. memory skills and
Individuals withDown is necessaryto keepthe
They feel trouble using fine-finger movements.
language to express thoughts
syndrome shouldbe fully womb healthy; it also
and needs, problems reading, includedinfamilyand prevents osteoporosis
and trouble processing what communitylife
they hear