Biology Final

Human Genetics - Genetic Disorders

Human Genetics - Genetic Disorders

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L. S.

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L. S.

About these flashcards

This flashcard set covers advanced biology topics at the university level, focusing on genetics, molecular biology, and cellular processes. Key areas include DNA replication, gene expression, mutations, and various genetic syndromes. It delves into the structure and function of chromosomes, the role of proteins and RNA, and the mechanisms behind diseases and syndromes. Ideal for students preparing for exams or deepening their understanding of biological concepts, this flashcard set provides a comprehensive review of fundamental and complex biological principles.

Flashcards

484

Students

27

Language

English

Category

Biology

Level

University

Created / Updated

09.01.2017 / 20.08.2025

Which statement about cystic fibrosis is false?

clinical symptoms occur in children during adolescence

sticky secretions in the pancreas, lungs, liver, alimentary canal, sex organs, salivary glands are clinica symptoms

it is caused by point mutation of CFTR gene

is is autosomal recessive disease

clinical symptoms occur in children during adolescence

sticky secretions in the pancreas, lungs, liver, alimentary canal, sex organs, salivary glands are clinica symptoms

it is caused by point mutation of CFTR gene

is is autosomal recessive disease

Which statement about Marfans syndrom is false?

It is a condition that affects the connective tissue

It is an autosomal recessive disease

It is linked to the FBN1 gene

both males and females can be affected

It is a condition that affects the connective tissue

It is an autosomal recessive disease

It is linked to the FBN1 gene

both males and females can be affected

Which subunit contains the ribonucleoside triphosphate binding site ?

B-site

Which subunit does bind to the mRNA strand first?

small ribosomal subunit

Which subunits does the Eukaryotic ribosome have?

30 S - 16S (rRNA)

40S - 18S (rRNA)

50S - 23S (rRNA)

60S - 28S (rRNA)

30 S - 16S (rRNA)

40S - 18S (rRNA)

50S - 23S (rRNA)

60S - 28S (rRNA)

Which subunits does the Prokaryotic Ribosome have?

30S - 16S (rRNA)

40S - 18S (rRNA)

50S - 23S (rRNA)

60S - 28S (rRNA)

30S - 16S (rRNA)

40S - 18S (rRNA)

50S - 23S (rRNA)

60S - 28S (rRNA)

Which two mutation occur often simoultaneously to two nonsister chromatids during Meiosis?

Deletion

Insertion

Inversion

Translocation

Deletion

Insertion

Inversion

Translocation

Which type of Deletion mutation does only reqiure one break of the chromosome?

Interstitial deletion

Terminal deletion

Interstitial deletion

Terminal deletion

Which type of Haemophilia is more common?

A Type- affecting clotting factor 8

B Type- affecting clotting factor 9

Both types are occuring at the same ratio

A Type- affecting clotting factor 8

B Type- affecting clotting factor 9

Both types are occuring at the same ratio

Which type of point mutation causes a Frame-shift mutation?

Deletion

Insertion

Transition

Transversion

Deletion

Insertion

Transition

Transversion

Which X-linked disorder is characterized by abnormal bleeding and failure of the blood to clot?

haemophilia

sickle cell anaemia

cystic fibrosis

albinism

haemophilia

sickle cell anaemia

cystic fibrosis

albinism

Why is the synthesized RNA chain always shorter than the original DNA strand?

Because the Intron sequences were removed during posttranscriptional RNA processing

Wolf-Hirschhorn’s syndrome is caused by deletion of:

The short arm of chromosome 4

The long arm of chromosome 4

The short arm of chromosome 5

The long arm of chromosome 5

The short arm of chromosome 4

The long arm of chromosome 4

The short arm of chromosome 5

The long arm of chromosome 5

Euchromatin is:

darkly stained, genetically inactive kind of chromatin

lightly stained, genetically active kind of chromatin

lightly stained, genetically inactive kind of chromatin

darkly stained, genetically active kind of chromatin

darkly stained, genetically inactive kind of chromatin

lightly stained, genetically active kind of chromatin

lightly stained, genetically inactive kind of chromatin

darkly stained, genetically active kind of chromatin

Phenotypic ratio which we get from crossing complementary genes

1: 4: 6: 4: 1

9 : 7

13 : 3

12 : 3 : 1

1: 4: 6: 4: 1

9 : 7

13 : 3

12 : 3 : 1

The neighbouring nucleotides in one DNA strand are held together by

N-glycosidic bonds

Phosphodiester bonds

Polypeptide chains

SSB proteins

N-glycosidic bonds

Phosphodiester bonds

Polypeptide chains

SSB proteins

. Heterochromatin is

A condensed string that does not take part in transcription

A condensed string that does take part in transcription

a loose string that takes part in transcription

a loose string that does not take part in transcription

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A condensed string that does not take part in transcription

A condensed string that does take part in transcription

a loose string that takes part in transcription

a loose string that does not take part in transcription

. Regarding Huntington disease, which of the following is true?

The gene is located on chromosome 14

Persons at risk have more likely inherited the disorder from their mothers

Affected persons have many more repeats of the base triplet CAG

The skeletal muscles become easily excitable

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The gene is located on chromosome 14

Persons at risk have more likely inherited the disorder from their mothers

Affected persons have many more repeats of the base triplet CAG

The skeletal muscles become easily excitable

Find the proper set of functions performed by endoplasmic reticulum:

a. Protein synthesis, posttranslational protein modification, glycogen synthesis, lipid synthesis

b. Protein synthesis, protein sorting, lipid synthesis, ATP synthesis

c. Lipid synthesis, xenobiotics degradation, glycogen storage

d. Detoxification, ATP synthesis, glicogen synthesis, posttranslational protein modification

Keyboard commands:

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a. Protein synthesis, posttranslational protein modification, glycogen synthesis, lipid synthesis

b. Protein synthesis, protein sorting, lipid synthesis, ATP synthesis

c. Lipid synthesis, xenobiotics degradation, glycogen storage

d. Detoxification, ATP synthesis, glicogen synthesis, posttranslational protein modification

. Single groove can be found in the structure of

Left-handed spiral of Z-DNA

Right-handed spiral of A-DNA

Left-handed spiral of B-DNA

Right-handed spiral of B-DNA

Keyboard commands:

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= for-/backward,

= scroll

Left-handed spiral of Z-DNA

Right-handed spiral of A-DNA

Left-handed spiral of B-DNA

Right-handed spiral of B-DNA

The ribosome size is usually expressed in units of

a. Molecular mass (kDa)

b. Mass (g)

c. Sedimentation (S) - Svedberg

d. Length (µm)

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a. Molecular mass (kDa)

b. Mass (g)

c. Sedimentation (S) - Svedberg

d. Length (µm)

. Sex determination of birds

female XX, male XY-protenor

female XX, male XY-abraxas

female XY, male XX-protenor

female XY, male XX-abraxas

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female XX, male XY-protenor

female XX, male XY-abraxas

female XY, male XX-protenor

female XY, male XX-abraxas

? Amount of primers in PCR

1- for both

2- for 5'-3' and 3'-5'

3- for 5'-3' , 3'-5' and for the end of the replication

4- 2 for each

Keyboard commands:

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1- for both

2- for 5'-3' and 3'-5'

3- for 5'-3' , 3'-5' and for the end of the replication

4- 2 for each

. The ribosome size is usually expressed in units of

Molecular Mass (kDa)

Mass (g)

Sedimentation in Svedberg units (S)

Length (mykrogram)

Keyboard commands:

= turn,

= for-/backward,

= scroll

Molecular Mass (kDa)

Mass (g)

Sedimentation in Svedberg units (S)

Length (mykrogram)

Single groove can be found in the structure of

a. Single groove can be found in the structure of

b. Right-handed spiral of A-DNA

c. Left-handed spiral of Z-DNA

d. Right-handed spiral of B-DNA

Keyboard commands:

= turn,

= for-/backward,

= scroll

a. Single groove can be found in the structure of

b. Right-handed spiral of A-DNA

c. Left-handed spiral of Z-DNA

d. Right-handed spiral of B-DNA

? Indicate the role of glucose in metabolic repression

Inhibits the activaty of an operon what leads to the rise of cAMP level in the cell

Inhibits the activity of adenylate cyclase, causing a decrease of cAMP level in the cell

Increases the activity of the operon causing the increase of cAMP level in the cell

Glucose binds to the repressor, activates it and thus inhibits transcription

Keyboard commands:

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= for-/backward,

= scroll

Inhibits the activaty of an operon what leads to the rise of cAMP level in the cell

Inhibits the activity of adenylate cyclase, causing a decrease of cAMP level in the cell

Increases the activity of the operon causing the increase of cAMP level in the cell

Glucose binds to the repressor, activates it and thus inhibits transcription

? If the phenotype is determined by genes on autosomal chromosomes that are more readily (?) expressed in one sex the genetic phenomenon is called:

Sex-linked inheritance

Maternal effect / Extranuclear Inheritance

Sex-influenced inheritance

None of the above

Sex-linked inheritance

Maternal effect / Extranuclear Inheritance

Sex-influenced inheritance

None of the above

DNA is a polymer composed of:

a. Nucleosides bonded via phospodiester bonds

b. 2-deoxyribose molecules linked together via phosphodiester bonds

c. Nucleotides linked together via phospodiester bonds

d. 2-deoxyribose molecules linked together via phosphodiester bond

a. Nucleosides bonded via phospodiester bonds

b. 2-deoxyribose molecules linked together via phosphodiester bonds

c. Nucleotides linked together via phospodiester bonds

d. 2-deoxyribose molecules linked together via phosphodiester bond

Valine is coded by the following triplets: GUU, GUC, GUA, and GUG. Which feature of the genetic code is related with this coding ability?

a. Ambiguity

b. Degeneration

c. Non-overlapping

d. Universality

a. Ambiguity

b. Degeneration

c. Non-overlapping

d. Universality

? The chip method of DNA is:

hybridisation of a fluorescence labelled DNA with oligonucleotides in different poles of the matrix

hybridisation of DNA with fluorescence labelled oligonucleotides in different poles other matrix

hybridisation of fluorescence labelled oligonucleotides with DNA in different poles of matrix

hybridisation of oligonucleotides with labelled DNA in different poles of matrix

hybridisation of a fluorescence labelled DNA with oligonucleotides in different poles of the matrix

hybridisation of DNA with fluorescence labelled oligonucleotides in different poles other matrix

hybridisation of fluorescence labelled oligonucleotides with DNA in different poles of matrix

hybridisation of oligonucleotides with labelled DNA in different poles of matrix

a cell that has 2n+1+1 chromosome is:

Trisomy

double Trisomy

Tetrasomy

double Tetrasomy

Trisomy

double Trisomy

Tetrasomy

double Tetrasomy

A cell that has 2n+2 chromosomes is:

trisomic

tetrasomic

triploidy

tetraploidy

trisomic

tetrasomic

triploidy

tetraploidy

A complex or rRNA and proteins, the site of the process of mRNA translation

Ribosome

Inosine in the anticodon can pair with

a. Guanine only

b. Uracil, cytosine or adenine

c. Guanine, adenine or cytosine

d. Uracil only

a. Guanine only

b. Uracil, cytosine or adenine

c. Guanine, adenine or cytosine

d. Uracil only

A deletion of two nucleotides in the middle of a reading frame is an example of:

structural mutation

frameshift mutation

nonsense mutation

numerical mutation

structural mutation

frameshift mutation

nonsense mutation

numerical mutation

A functional molecule of mRNA consists of 37 nucleotides. How many amino acids, present in the polypeptide chain, are synthesized

31

11

33

64

31

11

33

64

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Flashcards

Wolf-Hirschhorn’s syndrome is caused by deletion of:

The short arm of chromosome 4

The long arm of chromosome 4

The short arm of chromosome 5

The long arm of chromosome 5

Euchromatin is:

darkly stained, genetically inactive kind of chromatin

lightly stained, genetically active kind of chromatin

lightly stained, genetically inactive kind of chromatin

darkly stained, genetically active kind of chromatin

Phenotypic ratio which we get from crossing complementary genes

1: 4: 6: 4: 1

9 : 7

13 : 3

12 : 3 : 1

The neighbouring nucleotides in one DNA strand are held together by

N-glycosidic bonds

Phosphodiester bonds

Polypeptide chains

SSB proteins

1
..
9
10
11
12
13

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