B04 - Human Genetics at Medizinische Universität Wien

Flashcards and summaries for B04 - Human Genetics at the Medizinische Universität Wien

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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? 

Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:

How do Nucleotides bind together? 

Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:

What tells the c-value? 

Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:

Normal count of chromosomes in human cells + exceptions! 

Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:

Definition of homologous chromosomes 

Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:

What is the difference between Triploidy & Aneuploidy?

Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:

Why are trisomies etc. detrimental? 

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 ? 

Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:

What is so-called "extranuclear DNA"? 

Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:

Composition of Chromatin! 

Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:

Why do we need non-histone proteins within chromatin? 

Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:

Name some characteristics of histones! 

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Exemplary flashcards for B04 - Human Genetics at the Medizinische Universität Wien on StudySmarter:

B04 - Human Genetics

How are bases connected to ribose or deoxribose? 

N-glycosidic bond between N of the bases and C1 of the sugar 

B04 - Human Genetics

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 

B04 - Human Genetics

What tells the c-value? 

amount of DNA in the species haploid genome (= haploid DNA content) 


B04 - Human Genetics

Normal count of chromosomes in human cells + exceptions! 

  • Normal count: 23 chromosomes (22 autosome + XX / XY)
  • Exception: erythrocytes, megakaryocytes & cancer cells 

B04 - Human Genetics

Definition of homologous chromosomes 

Pair of chromosomes - one inherited from the father, the other one from the mother 

B04 - Human Genetics

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, ...) 

B04 - Human Genetics

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 

B04 - Human Genetics

How do female organism overcome the gene dosage effect regarding their sexchromosomes XX ? 

one randomly chosen X-Chromosome gets inactivated = Barr body; 

B04 - Human Genetics

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, .... 


B04 - Human Genetics

Composition of Chromatin! 

  • 1/3 DNA 
  • 1/3 Histones
  • 1/3 Non-histone proteins 

B04 - Human Genetics

Why do we need non-histone proteins within chromatin? 

  • less abundant than histones! 
  • for DNA replication, DNA repair, transcription, gene regulation, recombination, topoisomerases, .... 

B04 - Human Genetics

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 

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