Biology Final

Human Genetics - Genetic Disorders

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L. S.

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L. S.

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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.

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484

Utilisateurs

Langue

Anglais

Catégorie

Biologie

Niveau

Université

Créé / Mis à jour

09.01.2017 / 20.08.2025

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What is a nucleoside + phosphate group called?

Nucleotide

What is an example of accumulative inheritance in the human.

numbers of fingers

eyecolor

size

All of the above

What is another name for Helicase, the enzyme that is responsible for breaking and unwinding the DNA strand inside the replication bubble?

DnaB

What is another name for DNA polymerase 3?

Replicase

What is another name for the Enzyme Topoisomerase which is responsible for prevention of supercoils in front of replication bubble?

Gyrase

What is characteristic about group E of chromosomes?

small, metacentric and submetacentric, hard to differentiate

all are submetacentric, average size, hard to differentiate

small, metacentric, easy to differentiate

large metacentric

What is NOT a problem in Albinism

The convertion of the AminoAcid Tyrosine to the pigment Melanin

Toxic Phenylacetic acid accumulation due to maximum Phenylalanin levels

Little to no pigmets in skin and hair

Decreased Vision, sometimes Nystagmus and Strabinismus

Photophobia and high risk of burned skin when exposed to UV light

What is Gendrift?

Permanent change in the frequency of occurrence of the allele

Accumulation of fluctuation leading to sustained change

Finding that the frequency of the occurreence of one allele is constant

Genetic material of autosomes is passed on to next generation in mixed ratios

What is NOT a type of mutation?

Point

Triangle

structural chromosomal aberration

numerical chromosomal aberration

single chromosomal aberration

What is NOT a symptom belonging to Cystic fibrosis?

Hepatomegaly leading to liver and pancreas failure

Inability of pancreas enzymes to reach the Duodenum -> poor digestion

Sweat has high Sodium Chloride levels

Breathing difficulties and frequent infections in the respiratory tract

Almost all male are sterile because of missing Vase Deferens

What is NOT an element of Chromatin?

DNA

protein

RNA

Ribosomes

What is NOT an effect of a mutation in the PAH Gene like in Phenylketonuria?

Constantly decreasing levels of Phenylalanine in body

Increasing levels of Phenylalanine in body up to toxic levels

Weird "mousy" smelling Urine and sweat

Oliguria - decreased Urine output

Mental retardation due to toxic Phenylalanine levels

What is NOT correct regarding Cystic fibrosis?

Is also called Mucoviscidosis

Is one of the most frequent autosomal dominant diseases in Europe

Is due to mutation of cystic fibrosis transmembrane conducting regulator gene (CFTR)

involves accumulation of thick mucus in lungs and pancreatic ducts

What is NOT correct about the CFTR Gene beeing responible for Cystik fibrosis (Mucoviscidosis)

consists of 5 domains with one of them beeing responsible for chloride channel activity

eventhough itself beeing a sodium channel it is also responsible for import of chloride ions

By inhibiting the action of sodium chloride inside mucus-producing cells a chance in mucus consistency is the result

In Mucoviscidosis the Phenylalanine Codon at position 508 is deleted, leading to a loss of NBD1 activity

What is NOT part of the Nucleosome Core Partical (NCP)?

Linker DNA

Histone Octamer

tRNA complex

Core DNA

What is paracentric Inversion characertised of?

by one break occuring allowing for a chromosome segment to be flipped ~180° not including the centromere

by two breaks occuring allowing for a chromosome segment to be flipped ~180° including the centromere

by two breaks occuring allowing for a chromosome segment to be flipped ~180° not including the centromere

by a change of the arm length as a result of the inversion process

by the same length of arms after the inversion process

What is the Codon coding for Methionine and beeing start Codon at the same time?

AUG

What is the average Age of a person affected by Progeria - patients often die of heart disease (artherosklerosis f.ex)?

6-10yrs

1-3 yrs

30-36 yrs

8-21yrs

What is the combination of a pentose sugar with a N+Base called?

Nucleoside

What is the complete name of the CFTR gene?

Complete fibrosis transition conducting regulator gene

Cystic fibrosis transferring condition regulator gene

Cystic fibrosis transmembrane conducting regulator gene

Complete fibrotic transaction conducting ramus gene

What is the consensus sequence of the eukaryotic promoter ~ 30bp upstream of the transcriptional start site?

TATA-box (TATAAA)

What is the complex of Amino Acid an ATP called?

Aminoacyl-AMP intermediate

What is the consequence of a misssense mutation?

prevents DNA replication

codes for the wrong amino acid

deletes promoter region

introduces a stop codon

What is the definition of isochromosome?

it arises when a normal chromsome divides transversely instead of longitudinally

it is composed of two long arms and two short arms

it is structural aberration

All of the above

What is the difference between the Ribose sugar of RNA and the Deoxyribose sugar of DNA?

Reduction at C2: Ribose - OH, Deoxyribose - H

What is the effect of TFIIF:

recognizes TATA box

binds to TFIID

delivers Pol II and it binds to DNA

phosphorylates Pol II

What is the FBN1 gene encoding for:

Protein Fibrillin

Protein Fibrose

Fibrotic Tissue Accumulation

Cystofibrosis

What is the effect of TFIIH sometimes also called protein kinase?

bind to TFIID

recignize TATA box

bind to DNA strand

phosphorylates Pol II which then starts transcription

What is the function of the 2 alleles of the Phenylalanine hydroxylase (PAH)-Gene ?

Converting Phenylalanine in Tyrosine

Converting Phenylalanine in Alanine

Beeing responsible for de ability to produce ADH

Beeing responsible for the production of color pigmets to skin

What is the function of the Tryptophan operon?

Reducing the amount of inactive repressor

Linking the aporepressor to the co repressor (?) Place where they attach together ...

Expressing the gene trpR

Changing the protein CAP to an operator

What is the largest Group of HUman Chromosomes containing the numbers 6,7,8,9,10,11 and 12?

What is the Gene called where by transversion a change to the base of Codon 6 is made (GAG -> GUG) resulting in sickle cell anaemia?

HBB

CFTR

PAH

HGD

What is the name of an inactive repressor?

Aporepressor

What is the meaning of 4p.31.1

chromosome pair 4,long arm,region 31,line 1

chromosome pair 4,short arm,region 31, line 1

chromosome pair 4, long arm,region 3,line 1, subline 1

chromosome pair 4, short arm,region 3, line 1, subline 1

What is the name of structural chromosomal aberation in case on segment of the chromosome is lost?

Deficiency

Deletion

Inversion

Duplication

Isochromsome

What is the name of the Aminoacid not properly metabolised in PKU?

Phenylalanine (Phe)

Proline (Pro)

Threonine (Thr)

Alanine (Ala)

What is the name of the mutation where the end of a chromosome "gets lost"?

Isochromosome

Ring chromosome

Deletion (Deficiency)

Duplication

Inversion

What is the name of the complex where spindle fibers attach subdividing a chromosome?

Kinetochore

Kinetoplast

Kinetosome

Kinetoblast

What is the name of the regulator gene, having its own promoter P1, which is located upstream of the operon promoter?

lacA

lacB

lacI

lacM

lacX

What is the name of the regulator Gene of the trp operon?

trpR

trpS

trpT

trpU

trpV

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