PROTEIN

SYNTHESIS
DR MURIITHI M WARUINGI
 NUCLEUS

• THE NUCLEUS IS THE LARGEST CELLULAR ORGANELLE.

• IT IS BASICALLY THE CONTROL CENTRE OF THE CELL AND HARBOURS LARGE QUANTITIES OF
DNA.

• THE NUCLEOLUS IS THE NUCLEAR SUBDOMAIN THAT ASSEMBLES RIBOSOMAL SUBUNITS,

HARBOURING LARGE AMOUNTS OF RNA AND PROTEINS TYPES FOUND IN RIBOSOMES
 1.DNA

• HELICAL, DOUBLE-STRANDED STRUCTURE

• CARRIES GENETIC MATERIAL WHICH CONTROL CELL FUNCTION BY DETERMINING

WHICH SUBSTANCES ARE SYNTHESIZED WITHIN THE CELL- STRUCTURES, ENZYME,
CHEMICALS.

• A GENE IS A SEQUENCE OF DNA OR RNA THAT CODES FOR A MOLECULE THAT HAS A
SPECIFIC FUNCTION.
• THE BASIC CHEMICAL COMPOUNDS INVOLVED IN THE FORMATION OF
DNA INCLUDE:
• PHOSPHORIC ACID,

• A SUGAR CALLED DEOXYRIBOSE,

• FOUR NITROGENOUS BASES:

• TWO PURINES - ADENINE AND GUANINE
• TWO PYRIMIDINES -CYTOSINE AND THYMINE
COMPONENTS OF A TYPICAL GENE

Regulatory
region

DNA 5
 NUCLEOTIDES;
• 1ST STAGE IN DNA SYNTHESIS IS THE COMBINATION OF ONE
MOLECULE OF PHOSPHORIC ACID, ONE MOLECULE OF DEOXYRIBOSE,
AND ONE OF THE FOUR BASES TO FORM AN ACIDIC NUCLEOTIDE;
• DEOXYADENYLIC, DEOXYTHYMIDYLIC, DEOXYGUANYLIC, AND DEOXYCYTIDYLIC ACIDS

• MULTIPLE NUMBERS OF NUCLEOTIDES ARE THEN BOUND TOGETHER TO FORM TWO STRANDS OF
DNA
• THE STRANDS ARE USUALLY BOUND TOGETHER VIA WEAK HYDROGEN BONDS BETWEEN THE
PURINE AND PYRIMIDINE BASES SUCH THAT;
• EACH PURINE BASE ADENINE OF ONE STRAND ALWAYS BONDS WITH A PYRIMIDINE BASE THYMINE OF THE
OTHER STRAND
• EACH PURINE BASE GUANINE ALWAYS BONDS WITH A PYRIMIDINE BASE CYTOSINE.
 GENETIC CODE;

• WHEN THE TWO STRANDS OF A DNA MOLECULE ARE SPLIT APART, THIS
EXPOSES THE PURINE AND PYRIMIDINE BASES PROJECTING TO THE SIDE OF
EACH DNA STRAND, THESE PROJECTING BASES FORM THE GENETIC CODE.

• USUALLY CONSISTS OF SUCCESSIVE “TRIPLETS” OF BASES I.E EACH THREE

SUCCESSIVE BASES IS A CODE WORD.

• THE SUCCESSIVE TRIPLETS EVENTUALLY CONTROL THE SEQUENCE OF AMINO

ACIDS IN A PROTEIN MOLECULE THAT IS TO BE SYNTHESIZED IN THE CELL E.G
PROLINE, SERINE
 2.RNA
• SINGLE STRANDED
• BECAUSE THE DNA IS LOCATED IN THE NUCLEUS OF THE CELL, YET MOST OF THE FUNCTIONS OF THE
CELL ARE CARRIED OUT IN THE CYTOPLASM, THERE MUST BE SOME MEANS FOR THE DNA GENES OF
THE NUCLEUS TO CONTROL THE CHEMICAL REACTIONS OF THE CYTOPLASM, THIS IS ACHIEVED BY
THE RNA

• THE CODE IN THE DNA IS TRANSFERRED TO THE RNA THROUGH THE PROCESS OF TRANSCRIPTION
• THE RNA, IN TURN, DIFFUSES FROM THE NUCLEUS THROUGH NUCLEAR
PORES INTO THE CYTOPLASMIC COMPARTMENT, WHERE IT CONTROLS
PROTEIN SYNTHESIS.

• BUILDING BLOCKS OF RNA;

• RIBOSE SUGAR
• PHOSPHORIC ACID
• NITROGENOUS BASES-ADENINE,GUANINE,CYTOSINE,URACIL(IN
PLACE OF THYMINE IN DNA)
 TYPES OF RNA
1. MESSENGER RNA-WHICH CARRIES THE GENETIC CODE TO THE
CYTOPLASM FOR CONTROLLING THE TYPE OF PROTEIN FORMED.
2. TRANSFER RNA-WHICH TRANSPORTS ACTIVATED AMINO ACIDS TO
THE RIBOSOMES TO BE USED IN ASSEMBLING THE PROTEIN
MOLECULE.
3. RIBOSOMAL RNA, WHICH, ALONG WITH ABOUT 75 DIFFERENT
PROTEINS, FORMS RIBOSOMES, THE PHYSICAL AND CHEMICAL
STRUCTURES ON WHICH PROTEIN MOLECULES ARE ACTUALLY
ASSEMBLED.
PROTEIN SYNTHESIS
 TRANSCRIPTION

• PROCESS OF CREATING AN EQUIVALENT RNA COPY OF A SEQUENCE OF DNA.

• DURING THIS PROCESS A DNA SEQUENCE IS READ BY DNA POLYMERASE, WHICH PRODUCES A
COMPLEMENTARY , ANTIPARALLEL STRAND.
• THYMINE (T) IN THE DNA SEGMENT IS USUALLY REPLACED BY URACIL(U) IN THE COMPLEMENTARY RNA
STRAND
• THE STRETCH OF DNA TRANSCRIBED INTO AN RNA MOLECULE IS CALLED A TRANSCRIPTION UNIT AND
ENCODES ATLEAST ONE GENE

• IF THE GENE TRANSCRIBED ENCODES FOR A PROTEIN, THE RESULT OF TRANSCRIPTION IS MRNA, WHICH
WILL BE USED TO CREATE THAT PROTEIN VIA TRANSLATION

• A DNA TRANSCRIPTION UNIT ENCODING FOR A PROTEIN CONTAINS NOT ONLY THE SEQUENCE THAT
WILL EVENTUALLY BE DIRECTLY TRANSLATED INTO THE PROTEINS, REGULATORY SEQUENCES THAT DIRECT
AND REGULATE SYNTHESIS OF THAT PROTEIN
• TRANSCRPTION IS DIVIDED INTO 3 STAGES;
• INITIATION

• ELONGATION

• TERMINATION
 INITIATION
• RNA POLYMERASE IDENTIFIES AND ATTACHES TO PROMOTER REGION( A SEQUENCE OF
NUCLEOTIDES IMMEDIATELY AHEAD OF THE INITIAL GENE)
• THE RNA POLYMERASE HAS AN APPROPRIATE COMPLEMENTARY STRUCTURE THAT RECOGNIZES THIS
PROMOTER AND BECOMES ATTACHED TO IT.
• ESSENTIAL FOR INITIAL FORMATION OF RNA MOLECULE
 ELONGATION

• AFTER THE RNA POLYMERASE ATTACHES TO THE PROMOTER, THE POLYMERASE CAUSES
UNWINDING OF ABOUT TWO TURNS OF THE DNA HELIX AND SEPARATION OF THE
UNWOUND PORTIONS OF THE TWO STRANDS.
• THEN THE POLYMERASE MOVES ALONG THE DNA STRAND, TEMPORARILY UNWINDING AND
SEPARATING THE TWO DNA STRANDS AT EACH STAGE OF ITS MOVEMENT. AS IT MOVES
ALONG, IT ADDS AT EACH STAGE A NEW ACTIVATED RNA NUCLEOTIDE TO THE END OF THE
NEWLY FORMING RNA CHAIN
 TERMINATION
• WHEN THE RNA POLYMERASE REACHES THE END OF THE DNA GENE, IT ENCOUNTERS A NEW
SEQUENCE OF DNA NUCLEOTIDES CALLED THE CHAIN-TERMINATING SEQUENCE; THIS CAUSES THE
POLYMERASE AND THE NEWLY FORMED RNA CHAIN TO BREAK AWAY FROM THE DNA STRAND. THEN
THE POLYMERASE CAN BE USED AGAIN AND AGAIN TO FORM STILL MORE NEW RNA CHAINS.
 POST TRANSCRIPTION MODIFICATION
• AFTER TRANSCRIPTION, EDITING IS DONE TO MAKE THE RNA FUNCTIONAL(BASICALLY CONVERTING
THE PRE MRNA TO A MATURE MRNA
• INTRONS- NON FUNCTIONAL SEGMENTS OF DNA THAT ARE REMOVED
• EXONS- SEGMENTS OF DNA CODING FOR PROTEINS ARE THEN REJOINED BY THE ENZYME LIGASE
• A GUANINE TRIPHOSPHATASE CAP IS ADDED TO THE 5’ END OF THE NEWLY COPIED MRNA
• A POLY A TAIL IS ADDED TO THE 3’ END OF THE RNA
TRANSLATION

• THIS IS THE FIRST PROCESS OF PROTEIN BIOSYNTHESIS, AND INVOLVES PRODUCTION OF PROTEINS
BY DECODING M RNA PRODUCED THROUGH TRANSCRIPTION

• EACH CODON DECODED GUIDES THE FORMATION OF A SPECIFIC POLYPEPTIDE/PROTEIN

• WHEN A MOLECULE OF MESSENGER RNA COMES IN CONTACT WITH A RIBOSOME, IT TRAVELS

THROUGH THE RIBOSOME, BEGINNING AT A PREDETERMINED END OF THE RNA MOLECULE SPECIFIED
BY AN APPROPRIATE SEQUENCE OF RNA BASES CALLED THE “CHAIN-INITIATING” CODON.
• WHILE THE MESSENGER RNA TRAVELS THROUGH THE RIBOSOME, A PROTEIN MOLECULE IS FORMED-
TRANSLATION

• WHEN A “STOP” (OR “CHAIN-TERMINATING”) CODON SLIPS PAST THE RIBOSOME, THE END OF A
PROTEIN MOLECULE IS SIGNALED AND THE PROTEIN MOLECULE IS FREED INTO THE CYTOPLASM.

• RIBOSOMES CONSIST OF TWO PARTS, A LARGE SUBUNIT AND A SMALL SUBUNIT. THEY CONTAIN A
BINDING SITE FOR MRNA AND TWO BINDING SITES FOR TRANSFER RNA(TRNA) LOCATED IN THE
LARGE RIBOSOMAL SUBUNIT
• PROCEEDS IN FOUR PHASES;
➢ ACTIVATION

➢ INITIATION

➢ ELONGATION

➢ TERMINATION
 ACTIVATION
• EACH AMINO ACID IS ACTIVATED BY A CHEMICAL PROCESS IN WHICH ATP COMBINES WITH THE
AMINO ACID TO FORM AN ADENOSINE MONOPHOSPHATE COMPLEX WITH THE AMINO ACID
(AMP-AA COMPLEX) GIVING UP TWO HIGH-ENERGY PHOSPHATE BONDS IN THE PROCESS.

• THE ACTIVATED AMINO ACID, HAVING AN EXCESS OF ENERGY, THEN COMBINES WITH ITS SPECIFIC
TRANSFER RNA TO FORM AN AMINO ACID–TRNA COMPLEX( AA-TRNA ),AND AT THE SAME TIME,
RELEASES THE ADENOSINE MONOPHOSPHATE (AMP)
• THE ACTIVATED AMINO ACID, HAVING AN EXCESS OF ENERGY, THEN COMBINES WITH ITS SPECIFIC
TRANSFER RNA TO FORM AN AMINO ACID–TRNA COMPLEX AND, AT THE SAME TIME, RELEASES THE
ADENOSINE MONOPHOSPHATE.
 INITIATION
• THE TRANSFER RNA CARRYING THE AMINO ACID THEN COMES IN CONTACT WITH THE MESSENGER
RNA MOLECULE IN THE RIBOSOME- TYPICALLY STARTS AT THE START CODON AUG

• THE ANTICODON OF THE TRANSFER RNA ATTACHES TEMPORARILY TO ITS SPECIFIC CODON OF THE
MESSENGER RNA, LINING UP THE AMINO ACID IN APPROPRIATE SEQUENCE TO FORM A PROTEIN
MOLECULE
 ELONGATION
• PEPTIDE BONDS ARE FORMED BETWEEN THE SUCCESSIVE AMINO ACIDS, THUS ADDING
PROGRESSIVELY TO THE PROTEIN CHAIN.
• THIS IS UNDER THE INFLUENCE OF THE ENZYME PEPTIDYL TRANSFERASE.
• THESE CHEMICAL EVENTS REQUIRE ENERGY FROM TWO ADDITIONAL HIGH-ENERGY PHOSPHATE
BONDS, MAKING A TOTAL OF FOUR HIGH-ENERGY BONDS USED FOR EACH AMINO ACID ADDED
TO THE PROTEIN CHAIN.
 TERMINATION

• TRANSLATION CONTINUES UNTIL THE STOP CODON(AUG) IS REACHED , AND THE POLYPEPTIDE
CHAIN IS RELEASED.
• THE TRNA MOLECULES ARE USED AGAIN
• THE MRNA MOLECULES ARE ALSO REUSED APPROXIMATELY 10 TIMES BEIFORE BEING REPLACED.
 POST TRANSLATIONAL MODIFICATION
• AFTER THE POLYPEPTIDE CHAIN IS FORMED, IT IS MODIFIED TO THE FINAL PROTEIN BY:
a) ONE OR MORE OF A COMBINATION OF REACTIONS THAT INCLUDE HYDROXYLATION,
CARBOXYLATION, GLYCOSYLATION, OR PHOSPHORYLATION OF AMINO ACID RESIDUES
b) CLEAVAGE OF PEPTIDE BONDS THAT CONVERTS A LARGER POLYPEPTIDE TO A SMALLER FORM.

c) FOLDING AND PACKAGING OF THE PROTEIN INTO ITS ULTIMATE, OFTEN COMPLEX CONFIGURATION.
PATHOPHYSIOLOGY OF
PROTEIN SYNTHESIS
DR M W MURIITHI
 PRESENTATION OUTLINE

• SUMMARY OF PROTEIN SYNTHESIS

• ABNORMALITIES
• CLASSIFICATION
• DISCUSS IN SUMMARY ONE DISORDER IN EACH CLASS
• DIAGNOSIS
 MUTATIONS

➢MUTATIONS ARE CHANGES IN THE NUCLEOTIDE SEQUENCE OF DNA.

➢CAN EITHER BE GENETIC/HEREDITARY OR ACQUIRED/SOMATIC
➢A HEREDITARY MUTATION IS A MISTAKE THAT IS PRESENT IN THE
DNA OF VIRTUALLY ALL BODY CELLS.
➢MANY MUTATIONS ARE REPAIRED BY ENZYMES
 CAUSES
➢SPONTANEOUS MUTATIONS
OF MUTATIONS
CAUSED DURING DNA REPLICATION/INCORPORATION OF
INCORRECT NUCLEOTIDE INTO GROWING DNA CHAIN
➢INDUCED MUTATION
CHANGES IN DNA BROUGHT ABOUT BY SOME
ENVIRONMENTAL FACTORS EG MUTAGENS SUCH AS
✓CHEMICALS-NITROUS OXIDE, ALKYLATING AGENTS
✓SMOKING,
✓EXPOSURE TO RADIATION
 TYPES OF MUTATIONS

CLASSIFIED INTO:
➢GENOME MUTATION: (WHOLE CHROMOSOME)
➢GENE MUTATIONS-CHANGE IN THE NUCLEOTIDE SEQUENCE OF A GENE
MAY ONLY INVOLVE A SINGLE NUCLEOTIDE
➢CHROMOSOMAL MUTATION-ISSUE WITH CHROMOSOME STRUCTURE
LOSS OR GAIN OF A PART OF A CHROMOSOME.
 TYPES OF GENE MUTATIONS

• POINT MUTATION-SINGLE NUCLEOTIDE BASE MAY BE SUBSTITUTED BY A

DIFFERENT BASE.
• INSERTION-ONE/TWO BASE PAIRS MAY BE INSERTED INTO THE DNA
• DELETION-ONE/TWO BASE PAIRS MAY BE DELETED FROM THE DNA
• BOTH INSERTION AND DELETION MUTATIONS LEAD TO ALTERATIONS IN
THE READING FRAME OF THE DNA STRAND HENCE KNOWN AS FRAME
SHIFT MUTATIONS.
TYPES OF CHROMOSOMAL MUTATIONS
 DELETION
• DUE TO BREAKAGE.
• A PIECE OF CHROMOSOME IS LOST
 INVERSION
• CHROMOSOME SEGMENT BREAKS OFF
• SEGMENT FLIPS AROUND BACKWARDS
• SEGMENT REATTACHES
 DUPLICATION

• OCCURS WHEN A GENE SEQUENCE IS REPEATED

 TRANSLOCATION

• INVOLVES TWO CHROMOSOMES THAT AREN’T HOMOLOGOUS

• PART OF ONE CHROMOSOME TRANSFERRED TO ANOTHER
CHROMOSOMES
 NONDISJUNCTION
• FAILURE OF A CHROMOSOME TO SEPARATE DURING MEIOSIS
• CAUSES GAMETE TO HAVE TOO MANY OR TOO FEW
CHROMOSOMES
• DISORDERS:
• KLINEFELTER’S SYNDROME- XXY CHROMOSOMES
❖DOWN SYNDROME- THREE 21ST CHROMOSOMES
❖TURNER SYNDROME- SINGLE X CHROMOSOME
 END RESULTS
• INTERFERES WITH PROTEIN SYNTHESIS-CAUSES LOSS OF
FUNCTION
• SUPPRESS TRANSCRIPTION WITH GENE DELETIONS AND
POINT MUTATIONS INVOLVING PROMOTER SEQUENCE
• PRODUCE ABNORMAL MRNA FROM MUTATIONS
AFFECTING INTRONS
• DEFECTS ARE CARRIED TO TRANSLATION. TRANSLATION IS
AFFECTED IF A STOP CODON IS CREATED WITHIN AN EXON
• ABNORMAL PROTEINS WITHOUT IMPAIRING ANY STEP IN
 GENETIC DISORDERS
• POLYGENIC/MULTIFACTORIAL INHERITANCE-MUTATION CAUSED BY
BOTH GENETIC AND ENVIRONMENTAL FACTORS E.G. HTN,DM
• MONOGENIC/MENDELIAN DISORDERS-RESULTING FROM SINGLE
GENE MUTATIONS. THEY FOLLOW MENDELIAN FACTOR OF
INHERITANCE .
• CHROMOSOMAL DISORDERS- ARE ASSOCIATED WITH NUMERICAL
/STRUCTURAL CHANGES IN CHROMOSOMES
• MITOCHONDRIAL –CAUSED BY A MUTATION IN THE NON
CHROMOSOMAL DNA OF THE MITOCHONDRIA
 MONOGENIC DISORDER
• RESULT FROM MUTATIONS IN THE DNA SEQUENCE OF
SINGLE GENES.
• AS A RESULT THE PROTEIN THE GENE CODES FOR IS EITHER
ALTERED OR MISSING
• GENE EXPRESSION IS USUALLY DESCRIBED AS DOMINANT
OR RECESSIVE
a. AUTOSOMAL DOMINANT
b. AUTOSOMAL RECESSIVE
c. SEX LINKED (RECESSIVE) INVOLVING X CHROMOSOME
 AUTOSOMAL DOMINANT
• MANIFESTED IN THE HETEROZYGOUS STATE
• ONE PARENT OF AN INDEX CASE IS USUALLY AFFECTED
• BOTH MALES AND FEMALES ARE AFFECTED
• BOTH CAN TRANSMIT THE CONDITION
• CLINICAL FEATURES CAN BE MODIFIED BY REDUCES
PENETRANCE AND VARIABLE EXPRESSIVITY
• REDUCED PENETRANCE-SOME INDIVIDUALS INHERIT THE
MUTANT GENE BUT ARE PHENOTYPICALLY NORMAL
• VARIABLE EXPRESSIVITY-MUTANT GENE IS EXPRESSED
 AUTOSOMAL DORMINANT DISORDERS

• NERVOUS-HUNTINGTON DISEASE,NEUROFIBROMATOSIS,MYOTONIC DYSTROPHY,

• TUBEROUS SCLEROSIS
• GASTROINTESTINAL-FAMILIAL POLYPOSIS COLI
• HEMATOPOIETIC-HEREDITARY SPHEROCYTOSIS,VON WILLEBRAND DISEASE
• SKELETAL-MARFANS SYNDROME,EHLERS DANLOS SYNDROME,OSTEOGENESIS
IMPERFECT,ACHONDROPLASIA
• METABOLIC-FAMILIAL HYPERCHOLESTEROLEMIA,ACUTE INTERMITTENT PORPHYRIA
 AUTOSOMAL RECESSIVE

• RESULT WHEN BOTH ALLELES AT A GIVEN LOCUS ARE

MUTANTS
• FEATURE INCLUDE
• THE TRAIT DOES NOT USUALLY AFFECT THE ARENTS BUT
THE SIBLINGS MAY SHOW DX
• SIBLINGS HAVE 1 CHANCE IN 4 OF BEING AFFECTED
• EXPRESSION OF THE DEFECT TENDS TO BE MORE
UNIFORM THAN IN AD DISORDERS
• COMPLETE PENETRANCE IS COMMON
 AUTOSOMAL RECESSIVE DISORDERS

• METABOLIC-CYSTIC
FIBROSIS,PHENYLKETONURIA,GALACTOSEMIA,HOMOCYSTEINURIA,L
YSOSOMAL STORAGE DISEASES,WILSONS
DISEASE,HEMOCHROMATOSIS,
• HEMATOPOIETIC-SICKLE CELL ANEMIA,THALASSEMIAS
• ENDOCHRINE-CONGENITAL ADRENAL HYPERPLASIA,
• SKELETAL-ALKAPTONURIA
 SEX LINKED X

• SEX LINKED TRAITS ARE X LINKED

• CAN BE DOMINANT OR RECESSIVE
• NO Y LINKED INHERITANCE SINCE ALL GENES ENCODED IN THE MALE
SPECIFIC REGION OF Y ARE RELATED TO SPERMATOGENESIS.MALES WITH
MUTATIONS AFFECTING Y LINKED GENES ARE USUALLY INFERTILE.
• AN AFFECTED MALE DOES NOT TRANSMIT THE DISORDER TO HIS SONS
BUT ALL DAUGHTERS ARE CARRIERS
 X LINKED DISORDERS

• MUSKULOSKELETAL-DUCHENNE MUSCULAR DYSTROPHY

• BLOOD-HEMOPHILIA A AND B
• IMMUNE-AGAMMAGLOBULINEMIA,WISKOTT-ALDRICH SYNDROME
• METABOLIC-DIABETES INSIPIDUS,LESCH-NYHAN SYNDROME
• NERVOUS-FRAGILE X SYNDROME
 POLYGENIC INHERITANCE

• COMBINED ACTION OF ENVIRONMENTAL INFLUENCES AND 2 OR MORE MUTANT GENES

• EXPRESSION DEFERS BY NUMBER OF GENES
• CONTINOUS TRAITS EG HEIGHT VS DISCONTINUOUS TRAITS EG ALBINISM
• EXAMPLES INCLUDE
• CLEFT LIP/PALATE CONGENITAL HEART DISEASE
• CORONARY HEART DISEASE HYPERTENSION
• GOUT DIABETES MELLITUS
• PYLORIC STENOSIS
 CHROMOSOMAL
• IN THESE DISORDERS, GENETIC
ENTIRE CHROMOSOMES, DISORDR
OR LARGE SEGMENTS OF THEM, ARE MISSING, DUPLICATED, OR
OTHERWISE ALTERED.
• ORGANIZED INTO TWO GROUPS:
1) NUMERICAL ABNORMALITIES: WHEN AN INDIVIDUAL IS
MISSING EITHER A CHROMOSOME FROM A PAIR (MONOSOMY) OR
HAS MORE THAN TWO CHROMOSOMES OF A PAIR (TRISOMY)
2) STRUCTURAL ABNORMALITIES: WHEN THE CHROMOSOME'S
STRUCTURE IS ALTERED
• COULD ALSO BE DIVIDED INTO:
▪ AUTOSOMES-ARE THE FIRST 22 HOMOLOGOUS PAIRS OF
HUMAN CHROMOSOMES THAT DO NOT INFLUENCE THE SEX
OF AN INDIVIDUAL E.G. DOWN SYNDROME, TRISOMY
13,TRISOMY 18
▪ SEX CHROMOSOMES- E.G. THE 23RD PAIR OF CHROMOSOMES
THAT DETERMINE THE SEX OF AN INDIVIDUAL.
• EXAMPLES -KLINEFELTER XXY,-EXTRA SEX CHROMOSOME
• TURNER XO-MISSING SEX CHROMOSOME
 MITOCHONDRIAL INHERITANCE
• MATERNAL INHERITANCE
• THIS IS BECAUSE THE OVA CONTAIN NUMEROUS
MITOCHONDRIA WITHIN THEIR ABUNDANT CYTOPLASM
• SPERMATOZOA CONTAIN FEW
• DISEASES-MITOCHONDRIAL MYOPATHIES E.G. CHRONIC
PROGRESSIVE EXTERNAL OPTHAMOPLEGIA ,MYOCLONIC
EPILEPSY WITH RAGGED FIBERS
➢
DIAGNOSIS OF GENETIC DISORDERS
HX,PHYSICAL EXAM,LABWORKS AND IMAGING
➢ THERE ARE SEVERAL WAYS TO DETERMINE WHETHER A
CHILD WILL HAVE A GENETIC DISORDER
➢ TWO MAIN WAYS TO DIAGNOSE:
1.ANALYSIS OF FETAL CELLS
• AMNIOCENTESIS
• CHORIONIC VILLUS BIOPSY
2.IMAGING TECHNIQUES
• ULTRASONOGRAPHY (COMPUTERIZED IMAGE)
 SUMMARY OF PROTEIN SYNTHESIS DISORDERS

• CHROMOSOMAL DISORDERS
• MULTIGENE DISODERS
• SINGLE GENE DISORDERS
 REFERENCE

• ROBBINS AND COTRAN,PATHOLOC BASIS OF DISEASE 7TH EDITION

• GANONGS REVIEW OF MEDICAL PHYSIOLOGY 25TH EDITION
• TEXTBOOK OF MEDICAL PHYSIOLOGY GUYTON AND HALL.