Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Genetics and genomes > W1Lec. Introduction to Human Genetics; The Human Genome > Flashcards

W1Lec. Introduction to Human Genetics; The Human Genome Flashcards

You may prefer our related Brainscape-certified flashcards:
Biology 101 flashcards
1
Q

I. Basic terms
2. What is Genetics?

A

Science focusing on induvidual genes, the inheritence and variability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

I. Basic terms
1. What is Genome?

A

the complete genetic material of the cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

I. Basic terms
3. What is Genomics?

A

science focusing on the entire genome and the interection of genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

I. Basic terms
4. What is Epigenetics?

A

science focusing on inherited, however , not DNA sequence encoded changes of gene expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

II. Scope of Genetics
1. What are the 2 important factors of scope of genetics?

A
  1. Stability
  2. Variability
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

II. Scope of Genetics
2. Why is stability an important factor in scope of genetics?

A

Inheritance
- of a trait (phenotype)
- constant chromosomal number

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

II. Scope of Genetics
3. Why is Variability an important factor of scope of genetics?

A
  • Meiotic recombination
  • Crossover
  • Random assortment
  • Fertilization
  • Mutations / Polymorphisms - Epigenetic variations
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

III. Mendel’s law
1. What are the 3 laws of Mendel?

A
  1. Law of segregation
  2. Law of uniformity
  3. Law of Independent assortment
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

III. Mendel’s law
2. What is law of Segregation?

A

The 2 alleles for each gene separate during gamete formation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

III. Mendel’s law
3. What is law of uniformity?

A

F1 generation after monohetorozygotic cross

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

III. Mendel’s law
3. What is law of uniformity?

A

F1 generation after monohetorozygotic cross

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

III. Mendel’s law
4 What is law of independent assortment?

A

Alleles of genes on nonhomologous chromosomes assort independently during gamete formation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How many known loci are there?

A

16037

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How many human genes are there?

A

24 000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How many monogenic human genetic diseases follow Mendelian inheritance are there?

A

9 000

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What causes the differences in numbers?

A
  • Not all loci and genes are known yet
  • Many diseases / traits are not defined by one gene =
    complex traits / diseases
  • Even different parts and defects of one particular gene may be responsible for different traits / diseases
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the types of inheritance?

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is vertical gene transfer?

A

Transfer of information from generation to generation (from parent to offspring or from cell to daughter cells)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is horizontal gene transfer?

A

Transfer of information between same or different organisms within a generation (prokaryots and prokaryots or pro- and eukaryotes or eukaryotes and eukaryotes)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Explain Horizontal gene transfer between bacteria

A

3 types
- Bacterial transformation
- Bacterial transduction
- Bacterial conjunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the length of DNA?

A

2 m / cell nucleus
- In our body the DNA is 651 times longer than the distance of the Earth and the Moon

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Do all the cells of our body contain the same amount of DNA?

A
  • Somatic cells and germ cells differ
  • In somatic cells it also depends on the presence and number of nuclei (e.g. RBC, skeletal muscle cell)
  • Somatic cells also differ because of different stages of the cell cycle
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Is the DNA sequence identical in all somatic cells?

A

No, in T cells and B cells it is different (somatic gene rearrangement)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What does the DNA encode for?

A

RNAs and proteins

Lipids and carbohydrates are non-templated

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What are Building block s of DNA?

A
  • Nucleoside = 2 deoxyribose + purine/pyrimidine
  • Nucleotide = phosphoric acid + 2 deoxyribose + purine/pyrimidine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Give the structure of DNA

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

How many base pairs/ human somatic cell are there?

A

2x 3x10^9 base pairs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is the antisense or nonsense or non-coding strand?

A
  • The antisense or nonsense or non-coding strand: it is the active strand that participates in transcription of sense
    (5’AUG …3’) mRNA.
  • Single strands are written by convention 5’-3’.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Transcription followed by ___ based on the genetic code

A

translation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What are the 5 features of genetic code?

A
  1. Three letter code (triplets)
  2. Redundancy - Wobbling
    One aa may be coded by several triplets
    (20 aa – 61 triplets)
    3 stop codon (TAA, TAG, TGA)
  3. Comma-free, Non-overlapping
  4. Almost universal
  5. No ambiguity (1 codon encodes for 1 amino acid only)
31
Q

Describe the nucleosomal organization DNA

A
32
Q

What are 2 types of chromatin?

A
  1. euchromatin
  2. Heterochromatin
33
Q

Describe these 2 picture

A

(a) Euchromatin
- Uncoiled chromatin filament with nucleosomes “genes on”: active

(b) Heterochromatin
- Interphase chromatin filament: „genes off”: inactive
(30 nm )

34
Q

What is the role of histone code?

A

The histone code (chemical modification of histones) regulates the chromatin packing and gene transcription
- AC: Acetylation
- Methylation
- P: phosphorylation
- Ubiquitylation

35
Q

Describe the formation of chromosomes

A
35
Q

Describe the formation of chromosomes

A
36
Q

What is gene?

A

the unit of inheritance, part of the DNA or RNA

37
Q

What is locus?

A

location of a given gene on a chromosome

38
Q

What is gene product?

A

– RNA
– Protein

39
Q

What is allele?

A

allelomorph genes
* Gene variant at a given locus
* Wild type allele: the most frequent variant of a given gene in nature

40
Q

What is the Structure of the eukaryotic protein coding gene?

A
41
Q

What is the structure of mRNA?

A
42
Q

What is Genotype?

A

genetic composition of characteristics for an individual or a locus

43
Q

What is phenotype?

A

Measurable and observable features of a cell or and individual

44
Q

What is Phenocopy?

A

Trait which is caused by environmental conditions, that matches a phenotype which is determined by genetic factors.

45
Q

Explain Inheritance versus environmental effects

A
46
Q

What is homozygote?

A

identical alleles at the same loci of the chomosome pair

47
Q

What is heterozygote?

A

Different alleles at the same loci of the chomosome pair

48
Q

What is hemizygote?

A

Carries only a single copy of the gene

49
Q

What is dominant allele?

A

a gene variant that phenotypically always results in a given chracateristics (even in heterozygotes)

50
Q

What is recessive allele?

A

A gene variant that manifests phenotypically in homo- and hemizygotes only

51
Q

What are special problems of humangenetics to study the inheritance?

A
  1. Small (nuclear) families, mosaic families
  2. Technical (long life span of human)
  3. Lack of long term and exact records
    - Except aristocrats/Royal families
    - e.g. Inheritance of Habsburgian lip – mandibular prognathism
  4. ELSI (Ethical, Legal, and Social Issues), gene ethics
52
Q

What is the purpose of Methods of humangenetics?

A
  • To understand the correlation between genotype and phenotype
  • Possibility to develop genetically modified organisms
  • Extrapolation of common/similar traits from animal studies
53
Q

In the Methods of human genetics, we find out Extrapolation of common/similar traits from animal studies.
-> What is the example for it?

A

The same mutation of the same gene is responsible for red hair color and red fur

54
Q

Give examples of Methods of human genetics

A
  1. Pedigree analysis
  2. Twin studies
  3. Population screening
55
Q

Explain this pyramid

A
  • Genome = the complete genetic material of the cell
  • Transcriptome = the total RNA content of the cell
  • Proteome = the total protein content of the cell
  • Metabolome = the total small molecule content of the cell
56
Q

What is the difference between classical genetics and genomics?

A
  1. Classical Genetics - investigates the inheritance of one or few traits
  2. Genomics - investigates the whole genome, the function, structure and interactions of the complete gene-set.

(No definite difference between the two terms, even in the scientific usage, genetics and genomics are often interchangeable.)

57
Q

How are nuclear and mitochondrial genomes inherited?

A
  1. Nuclear DNA is inherited from all ancestors
  2. Mitochondrial DNA is inherited from a single lineage
58
Q

What are the differences between nuclear DNA and mtDNA?

A
59
Q

How many base pairs and genes are there in mitochondrial genome?

A

16 569 basepairs, 37 genes

60
Q

Several mitochondrial genes had been translocated to the ___

A

nucleus

61
Q

Describe Organization of the nuclear genome

A
62
Q

Describe The structure of the human genome

A
63
Q

What make people different from each other?

A

Between two people there are 3 million bp differences – every 1000nd bp are different.

64
Q

What is Single nucleotide variant (SNV)?

A
  • A variation in a single nucleotide without any limitations of frequency.
  • It may arise in somatic cells (e.g., caused by cancer), also called a single-nucleotide alteration.
65
Q

What are Repetitive sequences in the genome?

A
66
Q

What are the 2 methods of transposition?

A
  1. “cut and paste” (class II)
    DNA transposons
  2. “copy and paste” (class I) retrotransposons
67
Q

What is the Human Genome Project?

A

Project goals were to
1. identify all the approximately 20,000-25,000 genes in human DNA
2. determine the sequences of the 3 billion chemical base pairs that make up human DNA,
3. store this information in databases,
4. improve tools for data analysis,
5. transfer related technologies to the private sector, and
6. address the ethical, legal, and social issues (ELSI) that may arise from the project.

68
Q

Give the processes that human genome project speed up?

A
69
Q

What are major results of ENCODE (Encyclopedia of DNA Elements Project?

A
  1. Presumably a much larger proportion of the human DNA is active than what we thought previously:
  2. The majority of the non-coding regions participate in regulation of the expression of the coding 1%
70
Q

Describe Age of omics

A
  • The term ‘genomics’ also involves the special genomic methods and bioinformatics.
  • Genomics is part of the systems biology.
  • Several subtypes of genomics, e. g.
    – structural genomics,
    – comparative genomics,
    – plant genomics,
    – human genomics,
    –pharmacogenomics -thestudythe interaction of genes and drugs
    – Nutrigenomics (to study the interaction of genes and nutrition)
    – etc.
71
Q

The difference between the human and chimpanzee genomes is ___ only

A

4%

72
Q

Do genetics influence psychological well-being? How?

A

YES!!
Genes play a role in self-control, decision making, sociability, sense of purpose, how well to get on with people, and ability to continue learning and developing.

73
Q

How does Genetics influence political beliefs?

A

Genetic information might be used to predict variations in political opinion more reliably than we can use genetic information to predict longevity and alcoholism.

Genetics and genomes (19 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions