Summary BBS1005 (all Lectures + Cases!)

Inhoud
Case 1 ...................................................................................................................................................... 3
Mindmap ............................................................................................................................................. 3
Lecture ................................................................................................................................................. 4
Toevoegingen..................................................................................................................................... 22
Shadow case ...................................................................................................................................... 23
Case 2 .................................................................................................................................................... 24
Mindmap ........................................................................................................................................... 24
Lecture ............................................................................................................................................... 25
Toevoegingen..................................................................................................................................... 63
Shadow case ...................................................................................................................................... 64
Case 3 .................................................................................................................................................... 65
Mindmap ........................................................................................................................................... 65
Lecture ............................................................................................................................................... 66
Toevoegingen..................................................................................................................................... 91
Shadow case ...................................................................................................................................... 92
Case 4 .................................................................................................................................................... 93
Mindmap ........................................................................................................................................... 93
Lecture ............................................................................................................................................... 94
Toevoegingen................................................................................................................................... 113
Shadow case .................................................................................................................................... 114
Case 5 .................................................................................................................................................. 115
Mindmap ......................................................................................................................................... 115
Lecture ............................................................................................................................................. 116
Toevoegingen................................................................................................................................... 131
Shadow case .................................................................................................................................... 132
Case 6 .................................................................................................................................................. 133
Mindmap ......................................................................................................................................... 133
Lecture ............................................................................................................................................. 134
Toevoegingen................................................................................................................................... 149
Shadow case .................................................................................................................................... 150
Case 7 .................................................................................................................................................. 151
Mindmap ......................................................................................................................................... 151
Lecture ............................................................................................................................................. 152
Toevoegingen................................................................................................................................... 174

, Shadow case .................................................................................................................................... 175
Case 8 .................................................................................................................................................. 176
Mindmap ......................................................................................................................................... 176
Lecture ............................................................................................................................................. 177
Toevoegingen................................................................................................................................... 207
Shadow case .................................................................................................................................... 208
Case 9 .................................................................................................................................................. 209
Mindmap ......................................................................................................................................... 209
Lecture ............................................................................................................................................. 210
Toevoegingen................................................................................................................................... 248
Shadow case .................................................................................................................................... 249
Case 10 ................................................................................................................................................ 250
Mindmap ......................................................................................................................................... 250
Lecture ............................................................................................................................................. 251
Toevoegingen................................................................................................................................... 283
Shadow case .................................................................................................................................... 284
Case 11 ................................................................................................................................................ 285
Mindmap ......................................................................................................................................... 285
Lecture ............................................................................................................................................. 286
Toevoegingen................................................................................................................................... 306
Shadow case .................................................................................................................................... 307
Case 12 ................................................................................................................................................ 308
Mindmap ......................................................................................................................................... 308
Lecture ............................................................................................................................................. 309
Toevoegingen................................................................................................................................... 324
Shadow case .................................................................................................................................... 325

,Case 1
Mindmap

, Lecture
BBS1005 - Lecture 1

A monogenic disease is a disease caused by variation in a single gene and they are
typically recognized by their striking familial inheritance patterns.

Single nucleotide polymorphism is a change of one base in a gene which can lead
to an altered protein. It can be called a SNP if the variant is found in at least 1% of
the population.

DNA denaturation depends on the temperature, DNA first partially unwinds and
then it denaturates. An A-T bond is denaturated easier than a G-C bond. The
denaturation of DNA is reversible by lowering the temperature. The Tm is the
melting temperature, it is the temperature at which one half of the DNA duplex will
dissociate to become single stranded and indicates the duplex stability.