Case

HUMAN GENETICS, REPRODUCTION AND PRENATAL DEVELOPMENT (BBS1005)

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Course
HUMAN GENETICS, REPRODUCTION AND PRENATAL DEVELOPM (BBS1005)

Institution
Maastricht University (UM)

CASE1 & LECTURE 2 & LECTURE 3 & LECTURE 4 – DNA REPAIR, EPIGENETICS, GAMETOGENESIS CASE 2 & LECTURE 5: FERTILIZATION AND BALSTOCYST CASE 3 & LECTURE 6: GENE REGULATION CASE 4 & LECTURE 7: CELL CYCLE CASE 5 & LECTURE 8: IMPLANTATION & TWINS CASE 6 & LECTURE 9: MUTATIONS AND DETECTION METHODS...

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Uploaded on May 11, 2024
Number of pages 197
Written in 2022/2023
Type Case
Professor(s) Ulrike von rango
Grade 8-9

dna repair
epigenetics
gametogenesis
fertilization
balstocyst
gene regulation
cell cycle
implantation twins
segmentation
body plan
gut development
limb development
sex
mutations and detection method

Institution
Maastricht University (UM)
Education
Biomedical Sciences
Course
HUMAN GENETICS, REPRODUCTION AND PRENATAL DEVELOPM (BBS1005)

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HUMAN GENETICS, REPRODUCTION AND PRENATAL DEVELOPMENT SUMMARY

CASE1 & LECTURE 2 & LECTURE 3 & LECTURE 4 – DNA REPAIR, EPIGENETICS, GAMETOGENESIS

MIND MAP → DNA

PART 1: MUTATIONS

What is mutation?
• Mutation is a change in the sequence of bases in DNA or RNA
• They are heritable changes in the genetic information
• Mutations drive evolution

Mutations in non-coding DNA;
• Mostly harmless
• SNPs (single nucleotide polymorphisms); it is called for a mutation when more than 1%
of population has the mutation

1

, o If it happens in the non-coding region; it is harmless
o If it happens in the coding region; you could have a change in the function of the
gene but it will still be functioning because it is polymorphism. (You can survive with
this mutation)

Classification of mutations;
1. Gene mutations (DNA mutations); arise during replication or recombination
o Base substitutions (point mutations) (synonymous)
o Deletion (nonsynonymous)
o Insertion (nonsynonymous)
2. Chromosomal mutations

• Synonymous mutations: do not alter amino acid sequence (and are sometimes silent
mutations)
• Nonsynonymous mutations: alters the amino acid sequence of a protein

Base substitutions (point mutations);
• Transition; purine is substituted with another purine/pyrimidine is substituted with
another pyrimidine
• Transversion; purine is substituted with another pyrimidine/pyrimidine is substituted
with another purine

Occurrence types of point mutations;
• Silent; change in 3rd nucleotide such that due to wobble pairing same amino acid is
specified (no effect to the protein)
• Missense; one base change causes an amino acid to change
o Conservative missense; the change is very small
o Non-conservative missense; the change is very big

2

, • Nonsense; one base change causes an amino acid to change to a stop codon
• Neutral; changes are neither beneficial nor detrimental

Deletion and insertion
• They result in frameshift
• Insertion is adding one or more nucleotides to the sequence
• Deletion is removing one or more nucleotides to the sequence
• Insertion or deletion of multiples of 3 are in-frame since they do not alter the reading
frame of the genetic code

Types of chromosomal mutations
• Variation in chromosome structure
• Variation in number of chromosomes

Types of variations in chromosome structure
• Deletion; a portion of the chromosome breaks and get lost

• Duplication; a part of the chromosome is copied and additional genetic material is
present

• Inversion; to take a part of the chromosome turn it around and put it back in
o Pericentric inversion; includes centromere

3

, o Paracentric inversion; does not include centromere

• Translocation; a piece of one chromosome breaks off and attaches to another
chromosome

• Insertion; a portion of the chromosome is inserted to another chromosome

4

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