OVERVIEW OF GENETIC, EMBRYOLOGY AND REPRODUCTIVE SYSTEM
1. GENETICS
1.1. PURINE & PYRIMIDINE METABOLISM
1.1.1. PURINE
1.1.1.1. SYNTHESIS
1.1.1.1.1. De Novo pathway
1.1.1.1.2. Salvage pathway
1.1.1.1.3. Phosphorylation of purine nucleosides
1.1.1.2. DERIVATIVES
1.1.1.2.1. Adenine
1.1.1.2.2. Guanine
1.1.1.2.3. Hypoxanthine
1.1.1.2.4. Xanthine
1.1.1.3. DEGRADATION
1.1.1.3.1. AMP
1.1.1.3.2. GMP
1.1.1.3.3. Nucleic acids
1.1.1.4. BIOMEDICAL IMPORTANCE
1.1.1.4.1. Synthetic nucleotide analogs
1.1.1.5. DISORDERS
1.1.1.5.1. Gout
1.1.1.5.2. Lesch-Nyhan Syndrome (LNS)
1.1.1.5.3. Von Gierke's Disease
1.1.1.5.4. Hypouricemia
1.1.1.5.5. Adenosine deaminase deficiency (ADA)
1.1.2. PYRIMIDINE
1.1.2.1. SYNTHESIS
1.1.2.1.1. Synthesis Pathway
1.1.2.1.2. Regulation
1.1.2.2. DERIVATIVES
1.1.2.2.1. Uracil
1.1.2.2.2. Thymine
1.1.2.2.3. Cytosine
1.1.2.3. DEGRADATION
1.1.2.3.1. Degraded to highly soluble structures
1.1.2.4. CHEMOTHERAPEUTIC AGENT
1.1.2.4.1. Methothrexate
1.1.2.4.2. 5-fluorouracil & 5-iodo-2-deoxyuridine
1.1.2.5. DISORDERS
1.1.2.5.1. Orotic Aciduria
1.2. DNA
1.2.1. REPLICATION
1.2.1.1. Enzyme
1.2.1.1.1. Topoisomerase/Gyrase
1.2.1.1.2. Helicase
1.2.1.1.3. Primase
1.2.1.1.4. Ligase
1.2.1.1.5. DNA polymerase III
1.2.1.1.6. DNA Polymerase I
1.2.1.2. Protein
1.2.1.2.1. Single stranded binding protein (SSB)/helix destabilising protein
1.2.1.3. Sequence of replication
1.2.1.3.1. Unwinding proteins
1.2.2. DAMAGE & REPAIR
1.2.2.1. Types of DNA damage
1.2.2.1.1. Spontaneous
1.2.2.1.2. Induced
1.2.2.1.3. The Uvr System
1.2.2.2. Source of DNA damage
1.2.2.2.1. Exogenus
1.2.2.2.2. Endogenus
1.2.2.3. Response to DNA damage
1.2.2.3.1. Apoptosis
1.2.2.3.2. Cellular dysfunction
1.2.2.3.3. Increase mutation rate
1.2.2.4. DNA repair mechanisms
1.2.2.4.1. Photoreactivation
1.2.2.4.2. Base excision repair mechanism
1.2.2.4.3. Excision repair of pyrimidine base using UVR system
1.2.2.4.4. Incision
1.2.2.4.5. Mismatch Repair
1.2.2.4.6. Base flipping by methylases & glycosylases
1.2.2.4.7. Recombinant repair
1.2.2.4.8. Direct repair
1.2.2.4.9. Nucleotide excision repair mechanism
1.2.2.4.10. Repair of double strand break
1.2.2.5. Failure in DNA repair
1.2.2.5.1. Become malignant
1.2.2.5.2. Cell become senescent
1.2.2.5.3. Apoptotic cell
1.2.3. STRUCTURE, TYPE & FUNCTION
1.2.3.1. DNA structure
1.2.3.1.1. Z-DNA
1.2.3.1.2. B-DNA
1.2.3.1.3. A-DNA
1.2.3.2. Types of repetitive DNA
1.2.3.2.1. Tandemly repetitive DNA or satellite DNA
1.2.3.2.2. Mammalian DNA
1.2.4. RECOMBINANT
1.2.4.1. Strategies for obtaining fragments of DNA and copies of gene
1.2.4.1.1. Restriction fragments
1.2.4.1.2. DNA produced
1.2.4.1.3. Chemical synthesis of DNA
1.2.4.2. Techniques for identifying DNA sequencea
1.2.4.2.1. Probes
1.2.4.2.2. Gel electrophoresis
1.2.4.2.3. Detection of specific DNA sequences
1.2.4.2.4. DNA sequencing
1.2.4.3. Techniques for amplifying DNA sequences
1.2.4.3.1. Cloning of DNA
1.2.4.3.2. Libraries
1.2.4.3.3. Polymerase chain reaction (PCR)
1.2.4.4. Techniques for diagnosis of disease
1.2.4.4.1. Detection of polymorphism
1.2.5. TRANSCRIPTION
1.2.5.1. Synthesis of RNA from 5' to 3'
1.2.5.2. Occurs in the Nucleus/Nucleoid Region
1.2.5.3. Required Substances
1.2.5.3.1. DNA template- antistrand
1.2.5.3.2. RNA Polymerase
1.2.5.3.3. dNTPs
1.2.5.3.4. Topoisomerase/Gyrase
1.2.5.3.5. Sigma and Rho factors
1.2.5.3.6. Magnesium & Manganese Ions
1.2.5.4. PROCESS
1.2.5.4.1. Initiation
1.2.5.4.2. Elongation
1.2.5.4.3. Termination
1.2.5.5. Post-Transcriptional Modification
1.2.5.5.1. Only for Eucaryotes
1.2.6. TRANSLATION
1.2.6.1. Synthesis of Protein using RNA
1.3. RNA
1.3.1. rRNA
1.3.1.1. Structure of Translation
1.3.1.1.1. Consist of large subunit & small subunit
1.3.2. tRNA
1.3.2.1. Transfer amino acids to mRNA-rRNA complex
1.3.2.1.1. Acceptor Arm
1.3.2.1.2. DHU Arm
1.3.2.1.3. Thymine Pseudouracil Cytosine Arm
1.3.2.1.4. Anticodon Arm
1.3.2.2. Has a soluble part
1.3.3. mRNA
1.3.3.1. Provide information for translation
1.3.3.1.1. May have different shapes
1.3.3.2. Highest Molecular Mass
2. REPRODUCTIVE SYSTEM
2.1. DEVELOPMENT & DIFFERENTIATION OF REPRODUCTIVE SYSTEM
2.1.1. chromosomal abnormalities
2.1.1.1. Gonadal dysgenesis
2.1.1.1.1. incomplete differentiation of gonads
2.1.1.1.2. caused by meiotic division errors
2.1.1.1.3. Klinefelter syndrome- 47,XXY
2.1.1.1.4. Turner syndrome- 45, XO
2.1.1.1.5. Hermaphroditism- individuals with ovatestis and uterus
2.1.2. SEXUAL REPRODUCTION
2.1.2.1. Sperm from adult male
2.1.2.2. Ovum from adult female
2.1.3. SEX DETERMINATION
2.1.3.1. FORMATION OF TESTES
2.1.3.2. FORMATION OF OVARIES
2.1.3.2.1. TESTIS-DETERMINING FACTOR (TDF)
2.1.3.2.2. ABSENCE OF TDF ( OVARIES DEVELOP)
2.2. Pregnancy and Parturition
2.2.1. Stimulates testes of male fetus to secrete testosterone
2.2.2. Fertilization
2.2.2.1. fusion of sperm pronucleus and ovum pronucleus to produce complete complement of 46 chromosomes
2.2.2.2. Ovum completes meiosis II to form mature ovum and second polar body
2.2.3. Transport of fertilized ovum
2.2.3.1. Fluid current from epithelial secretion aid in transport
2.2.3.2. Weak contraction of oviducts aid in transport of ovum
2.2.4. Implantation
2.2.4.1. blastocyst gets in nutrients from uterine milk
2.2.4.2. 7 days after ovulation, blastocyst implants in uterine wall
2.2.5. Hormones
2.2.5.1. Human Chorionic Gonadotropin (HCG)
2.2.5.1.1. Prevent involution and stimulates growth of corpus luteum
2.2.5.2. Estrogen
2.2.5.2.1. Increase
2.2.5.3. Progestins
2.2.5.3.1. Increase endometrial secretion
2.2.5.4. Human Chorionic somatomammotropin(HCS)
2.2.5.4.1. Promotes protein formation
2.2.5.4.2. Decreases insulin sensitivity and glucose utilized by mother so larger amount of glucose available for fetus
2.2.5.4.3. Promotes release of free fatty acids as alternative source of energy
2.2.5.4.4. Stimulate development of breast
2.2.5.5. Oxytocin
2.2.5.5.1. positive feedback of uterine contraction
2.2.5.5.2. stimulates milk ejection
2.2.5.6. Thyroid Stimulating Hormone(TSH)
2.2.5.6.1. Brain development of the baby
2.2.5.7. Prolactin
2.2.5.7.1. Responsible for milk secretion
2.2.5.8. Glucocorticoids
2.2.5.8.1. Mobilize amino acids for fetal tissue synthesis
2.2.5.9. Thyroxine
2.2.5.9.1. Increase metabolism
2.2.5.10. Parathyroid hormone (PTH)
2.2.5.10.1. Maintain maternal calcium ion concentration for fetal bone formation
2.2.5.11. Relaxin
2.2.5.11.1. Softens the cervix during delivery
2.2.5.12. contain large number of follicles that produce ova
2.3. Female reproductive system and menstrual cycle
2.3.1. Development of new follicles and another ovulation are inhibited by
2.3.1.1. high progesterone and estrogen give strong feedback on LH and FSH
2.3.1.2. inhibin from corpus luteum further inhibit FSH
2.3.2. Reproductive organ
2.3.2.1. ovaries
2.3.2.2. fallopian tubes
2.3.2.2.1. have cilia on its lining- move ovulated eggs to the uterus
2.3.2.3. uterus
2.3.2.3.1. 3 layers
2.3.2.3.2. cervix- opening of uterus
2.3.3. Menstrual cycle
2.3.3.1. Ovarian cycle
2.3.3.1.1. Follicular phase
2.3.3.1.2. Luteal phase
2.3.3.2. Uterine cycle
2.3.3.2.1. Proliferative phase
2.3.3.2.2. Secretory phase
2.3.3.2.3. Menstrual phase
2.4. Male reproductive system
2.4.1. Spermatogenesis
2.4.1.1. occur in wall of seminiferous tubules
2.4.1.1.1. spermatogonium-> primary spermatocyte-> secondary spermatocyte-> spermatids-> sperm
2.4.2. steroidogenesis
2.4.2.1. In the testis, steroidogenesis is restricted to Leydig cells where conversion of cholesterol to testosterone (T)
2.4.3. Male fertility
2.4.3.1. Normal
2.4.3.1.1. Volume of ejaculation 1-5ml
2.4.3.1.2. 60-150 million sperm/ml
2.4.3.2. Abnormal
2.4.3.2.1. Sperm
2.4.3.2.2. Testicular function
3. EMBRYOLOGY
3.1. 1ST WEEK OF EMBRYONIC DEVELOPMENT
3.1.1. CLEAVAGE PROCESS
3.1.1.1. Cell in zygote divide via mitosis
3.1.1.2. Compaction of morula cells
3.1.1.3. Formation of embryoblast: the inner mass cells of a blastocyst
3.2. 2ND WEEK OF EMBRYONIC DEVELOPMENT
3.2.1. BLASTULATION
3.2.1.1. Implantation of blastocyst into the endometrium lining
3.2.1.2. Endometrium >>>> Decidua
3.2.1.3. Embryoblast
3.2.1.3.1. Epiblast
3.2.1.3.2. Hypoblast
3.3. 3RD WEEK OF EMBRYONIC DEVELOPMENT
3.3.1. GASTRULATION
3.3.1.1. Formation of Primitive Streak on Epiblast
3.3.1.1.1. Consist of Primitive Node, Primitive Pit & Primitive Groove
3.4. 4TH WEEK OF EMBRYONIC DEVELOPMENT
3.4.1. NEURULATION
3.4.1.1. NEURAL PLATE
3.4.1.1.1. NEURAL TUBE
3.4.1.2. NEURAL PLATE BORDER
3.4.1.2.1. NEURAL CREST
3.4.1.3. NOTOCHORD
3.4.1.3.1. INTERVERTEBRAL DISC