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.
Karten
484
Lernende
27
Sprache
Englisch
Kategorie
Biologie
Stufe
Universität
Erstellt / Aktualisiert
09.01.2017 / 20.08.2025

Cartes-fiches

This occurs when a chromosome segment is detached, flipped 180° and then reattached to the rest of the chromosome. 

This is gain or loss of one or more chromosomes, leading to f.ex. trisomy or monosomy 

To begin DNA replication in Prokaryotes what protein binds first to DNA ?

To digest lactose the bacterial cells have to produce 3 enzymes

Transcription occurs along a ... template strand forming an mRNA molecule in the ... direction

Transcription and Translation of a Gene composed of 60 Nucleotides would form a protein containing no more than ... amino acids:

Translation is when:

Trp is encoded by which codon:

Turner's syndrome is a genetic disorder affecting

Tus protein (factor) is required in

Unwinds parental double Helix at Replication Forks by breaking Hydrogen Bonds between DNA strands:

Helicase

Up to how many versions of the codons can aminoacyl- tRNA bind?

Upward slanting eyes, enlarged and protruding tongue, brushfield spots and flattened nasal bridge are characteristics of?

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

What are NOT clinical features of Alkaptonuria, beeing an autosomal recessive disease caused by the mutation of the HGD gene?

Webbing of neck, abnormal finger-and toenails, underdeveloped breasts and no menstruation are characteristic of which genetic disorder caused by numerical aberration?

What are NOT correct specific symptoms of Huntington's Disease!

What are NOT clinical symptoms of Ehlers-Danlos syndrome:

What are NOT main symptoms in Progeria (Hutchinson-Gilford)-syndrome?

What are NOT symptoms in a person affected by sickle cell anemia?

What are termination Codons in Vertebral Mitochondria?

What are NOT correct specific symptoms shown by an Achondroplasia patient!

What are the names of the 5 structural Genes of the trp operon?

What are the first symptoms shown of a child affected with Hutchinson-Gilford progeria syndrome ?

What are the structural Genes in the lac Operon of E.coli

What are the Release Factors in Eukaryotes called?

What are the two basic types of ribosomes?

What are the subunits of the RNA polymerase? 

A2BB'o

What attaches to the RNA strand when a STOP Codon is reached (Eukaryotes)?

Release Factor

What are the two types of Mutation belonging to the single-base substitution?

What binds to and stabilizes single-stranded DNA until it is used as a template?

Single-strand binding protein

What can transversion not produce?

What does RF1 do in Prokaryotes?

Recognize UAA and UAG STOP Codons for termination of RNA translation

What does cytoplasmic inheritance affect?

inheritance of traits, usually via the maternal line, controlled by an extrachromosomal /Extranuclear element. 

What does RF2 do in Prokaryotes ?

Recognize UAA and UGA STOP Codons for termination of RNA translation

What does RF3 do in Prokaryotes?

Binds GTP and releases RF1 and RF2 after the polypeptide chain has been released [Translation]

What does the mutated Gene LMNA in Progeria encode for?

What gen is important fort he determination of a male

What is a characteristic of the recognition sequence recognized by the sigma-subunit of RNA polymerase?

What is a clinical symptom in Philadelphia chromosome?

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