Biology Final

Human Genetics - Genetic Disorders

Human Genetics - Genetic Disorders


L. S.
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

Flashcards

Cleft palate and/ or palate and eye defect are typical for

Cleft palate and/or lip, an-or microphtalmia, malformed ears and polydactyly are characteristic of?

Diploid organism produces gametes in the following proportions: Bm – 33%, bM – 33%, BM – 18%, bm – 18%. Based on these data, it can be concluded that:

Compared to a healthy person having ... CAG repeats, a person affected by Huntington's Disease has ...

Cranial assymmetry with prominent forehead, down turned fishlike mouth with cleft palate/lip and strabismus and hearling loss are characteristic for?

CDK proteins participate in cell cycle regulation by: 

Duchenne muscular dystrophy is caused by mutations of:

Oogenesis: 

Duchenne muscular dystrophy is caused by:

Due to the increased number of glutamine repeats (>35) in people affected by Huntington's Disease and the presence of the protein huntingtin, this leads to:

What is the stage of the cell liberated from the mature Graafian follicle

During Iniation of translation?

During meiosis the homologous chromosomes are separating during

It is NOT the truth that the sperm cells:

During Translation the ... site within the ribosome holds the growing amino acid chain while the ... site holds the next amino acid to be added

During S phase of the cell cycle the following process takes place:

FISH method allows visualizing the certain DNA fragments in chromosomes because this method uses: 

Ehler-Danlos is a ...

Enzyme that adds complementary nucleotides to the growing DNA strand?

In the process of biotechnological insulin production genes coding for A and B insulin subunits are located: 

Eukaryotic RNA polymerase 3 synthesizes:

Enzyme which breaks hydrogen bonds between N-Bases during replication

Helicase

Eventhough the symptoms vary along the Alzheimer Patients there are ... broad stages to the disease:

For how many Enzymes do the 5 structural Genes of trp Operon code?

For which other diseases is Phenylalanine the substance (often via Tyrosine)

For which lactose degrading enzymes do the structural genes of the lactose operon in E.coli code?

Funtionally related Genes in bacterial cell often clustered together as single unit controlled by a single primer

Operon

Genetically inactive, tightly packed and dark-staining form of chromatin 

Heterochromatin

Give an example for a silent mutation:

Give an example of a repressible operon!

trp operon

Give the correct order of RNA modification in eukaryotes:

Give an example of an inducible operon in E.coli!

lac Operon

Haemophilia A is the result of a deficiency in:

How can one calculate the number of aminoacids in a polypeptide chain when the number of nucleotides is known?

Number of Nucleotides / 3 (3 per Codon) - 1 (for STOP Codon)

How does the presence of lactose cause the lac operon to be transcribed?

how is the TrpR protein in aporepressor (inactive) form activated?

by presence and binding of Trytophan

How many autosomes does a person have in germ cells of his or hers?

How many alleles does the Gene for Phenylalanine Hydroxylase (PAH) have, beeing affected in Phenylketonuria (PKU)?

How many mutated alleles are necessary for a child to be affected in an autosomal dominant disease?

How many bp are approx. part of a Nucleosome Core Particle?

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