BBS1005
Human Genetics,
Reproduction and Prenata
CASE 1 3
, The general structure of DNA and proteins, transcription and translation 3
What is meiosis? 4
understand the difference between myosis and mitosis 6
(gametogenesis in relation to meiosis) 6
What types of mutations are there? 6
Different types of repair mechanisms and how do they work? 8
Difference between male and female gametogenesis? 11
Case 2 13
How does fertilization work? 13
spermiogenesis 13
Fertilization 13
Stages of embryonic development (only early stages) 17
Stages of the cell cycle (G1 S2 M1 just the stages interface, cleavage) 19
potencies of the cell 20
What is IVF 21
What is PGD 21
Case 3 22
What is cell differentiation 22
DNA organisation 22
Gene regulation at DNA level 25
gene expression regulation at the RNA level 27
regulation at protein level + degradation 29
drosophila 32
master genes (hox genes), transcription regulators 31
gradient formation (where the head and the tail is 32
induction of differentiation zones, segmentation 32
Case 4 32
What are the basic phases of the cell cycle? 32
Checkpoints and their mechanisms (why are they needed) 33
How does the cell progase to the next cell phase? 34
What genes are involved? (+checkpoints, P53) 39
Case 5 41
Implantation 41
How does the blastocyst implantation take place? 41
Development of the embryo until the 4th week 45
How is the embryo nourished 47
explain figure one 47
Identical twins 47
Different types of monozygotic twins (how do they develop) 47
Is becoming pregnant with monozygotic twins genetically predetermined? 48
Histone modification 48
DNA modification 49
, Why are genotypic twins not per se phenotypically identical and why do differences
increase with age? 50
what factors influence epigenetics 50
explain figure 2 50
Case 6 52
Case 7 58
what is the process of gastrulation (hox genes) 58
explain the segmentation clock (somites & CNS) 62
disturbances in hox genes ✔️ 65
how do somites further develop ✔️ 65
CASE 8 68
How does the intestinal tract develop? 76
Explain Wnt signaling and the pathway 73
Explain Wnt signaling in the gut 76
the role of Wnt in stem cell proliferation 76
how can disturbance of wnt signaling lead to cancer. 76
CASE 9 78
limb development 84
Intrinsic and extrinsic apoptosis 84
apoptosis in development of the fingers 84
Case 10 87
Explain the process of differentiation (primary and secondary) 87
Explain the case of MArieke (sex reversal) 93
conclude form the primary sex determination which cases may result in a complete
sex reversal 93
Case 11 95
how does the heart develop before birth 95
heart development after birth, blood circulation 101
TOF Tetralogy of Fallot , can it be genitacally determined? 102
Case 12 103
What are miRNA’s? 103
how are they produced 104
What are the functions of miRNA? 105
How does miRNA help in embryology 106
How can specific miRNAs help detecting embryogenic defects (heart) 106
CASE 1
The general structure of DNA and proteins, transcription and translation
, DNA(deoxyribonucleic acid) is made up of nucleotides (sugar group + phosphate group +
base)
4 bases: adenine, thymine, guanine, cytosine (uracil)
The strands are held together by hydrogen bonds between the bases (A-T) (C-G) (A-U)
DNA → transcription → RNA → translation → protein
What is meiosis?
Human Genetics,
Reproduction and Prenata
CASE 1 3
, The general structure of DNA and proteins, transcription and translation 3
What is meiosis? 4
understand the difference between myosis and mitosis 6
(gametogenesis in relation to meiosis) 6
What types of mutations are there? 6
Different types of repair mechanisms and how do they work? 8
Difference between male and female gametogenesis? 11
Case 2 13
How does fertilization work? 13
spermiogenesis 13
Fertilization 13
Stages of embryonic development (only early stages) 17
Stages of the cell cycle (G1 S2 M1 just the stages interface, cleavage) 19
potencies of the cell 20
What is IVF 21
What is PGD 21
Case 3 22
What is cell differentiation 22
DNA organisation 22
Gene regulation at DNA level 25
gene expression regulation at the RNA level 27
regulation at protein level + degradation 29
drosophila 32
master genes (hox genes), transcription regulators 31
gradient formation (where the head and the tail is 32
induction of differentiation zones, segmentation 32
Case 4 32
What are the basic phases of the cell cycle? 32
Checkpoints and their mechanisms (why are they needed) 33
How does the cell progase to the next cell phase? 34
What genes are involved? (+checkpoints, P53) 39
Case 5 41
Implantation 41
How does the blastocyst implantation take place? 41
Development of the embryo until the 4th week 45
How is the embryo nourished 47
explain figure one 47
Identical twins 47
Different types of monozygotic twins (how do they develop) 47
Is becoming pregnant with monozygotic twins genetically predetermined? 48
Histone modification 48
DNA modification 49
, Why are genotypic twins not per se phenotypically identical and why do differences
increase with age? 50
what factors influence epigenetics 50
explain figure 2 50
Case 6 52
Case 7 58
what is the process of gastrulation (hox genes) 58
explain the segmentation clock (somites & CNS) 62
disturbances in hox genes ✔️ 65
how do somites further develop ✔️ 65
CASE 8 68
How does the intestinal tract develop? 76
Explain Wnt signaling and the pathway 73
Explain Wnt signaling in the gut 76
the role of Wnt in stem cell proliferation 76
how can disturbance of wnt signaling lead to cancer. 76
CASE 9 78
limb development 84
Intrinsic and extrinsic apoptosis 84
apoptosis in development of the fingers 84
Case 10 87
Explain the process of differentiation (primary and secondary) 87
Explain the case of MArieke (sex reversal) 93
conclude form the primary sex determination which cases may result in a complete
sex reversal 93
Case 11 95
how does the heart develop before birth 95
heart development after birth, blood circulation 101
TOF Tetralogy of Fallot , can it be genitacally determined? 102
Case 12 103
What are miRNA’s? 103
how are they produced 104
What are the functions of miRNA? 105
How does miRNA help in embryology 106
How can specific miRNAs help detecting embryogenic defects (heart) 106
CASE 1
The general structure of DNA and proteins, transcription and translation
, DNA(deoxyribonucleic acid) is made up of nucleotides (sugar group + phosphate group +
base)
4 bases: adenine, thymine, guanine, cytosine (uracil)
The strands are held together by hydrogen bonds between the bases (A-T) (C-G) (A-U)
DNA → transcription → RNA → translation → protein
What is meiosis?
