B04 - Human Genetics at Medizinische Universität Wien
Flashcards and summaries for B04 - Human Genetics at the Medizinische Universität Wien
It’s completely free
4.5 /5
4.8 /5
4.5 /5
4.8 /5
Study with flashcards and summaries for the course B04 - Human Genetics at the Medizinische Universität Wien
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
How are bases connected to ribose or deoxribose?
N-glycosidic bond between N of the bases and C1 of the sugar
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
How do Nucleotides bind together?
Covelnt bonds form between the phosphate that is linked to the 5' carbon of one nucleotide and the 3' carbon of the sugar of the next nucleotide
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
What tells the c-value?
amount of DNA in the species haploid genome (= haploid DNA content)
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
Normal count of chromosomes in human cells + exceptions!
- Normal count: 23 chromosomes (22 autosome + XX / XY)
- Exception: erythrocytes, megakaryocytes & cancer cells
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
Definition of homologous chromosomes
Pair of chromosomes - one inherited from the father, the other one from the mother
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
What is the difference between Triploidy & Aneuploidy?
- Triploidy: the whole genome gets copied (e.g. 69 XXX, ...)
- Aneuploidy: only chromosome gets copied (e.g. 47 XY, 45X, ...)
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
Why are trisomies etc. detrimental?
Gene dosage effect: lower or higher expression off genes encoded on an additional or missing chromosome --> leads to imbalance in the organism
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
How do female organism overcome the gene dosage effect regarding their sexchromosomes XX ?
one randomly chosen X-Chromosome gets inactivated = Barr body;
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
What is so-called "extranuclear DNA"?
Mitochondria & Chloroplasts are descendants from free living cells: the still contain a circular chromosome with a few genes on it
- 1 circular chromsome with ~ 17kb (containing 37 genes)
- only maternal inheritance (therefor no crossing over!)
- mutations in mitochondrial DNA --> LHON, ....
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
Composition of Chromatin!
- 1/3 DNA
- 1/3 Histones
- 1/3 Non-histone proteins
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
Why do we need non-histone proteins within chromatin?
- less abundant than histones!
- for DNA replication, DNA repair, transcription, gene regulation, recombination, topoisomerases, ....
Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:
Name some characteristics of histones!
- group of similar interacting proteins: H2A, H2B, H3, H4, H1
- rich in arginine & lysine (+) --> good interaction with DNA (-)
- for coiling up the DNA and regulation of transcription
Your peers in the course B04 - Human Genetics at the Medizinische Universität Wien create and share summaries, flashcards, study plans and other learning materials with the intelligent StudySmarter learning app.
Get started now!
