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

Lernkarten

which compounds are bonded togehter to make polypetides?

Which complementary bases have 3 bonds connecting them? 

Which condition results from nondisjunction of the autosomes?

Which disease is caused by numerical aberration?

Which Disease is caused by Transition or Transversion?

Which Disease is characterized of Urine becoming brown-black when exposed to air?

Which Enzyme catalyzes tRNA charging?

aminoacyl-tRNA-synthetase

Which Elongation factor does mediate the entry of he aminoacyl tRNA into a free site of the ribosome?

eEF1

Which Enzyme forms the Peptide Bonds between Aminoacids during Translation?

Peptidyl Transferase

Which Enzyme catalyzses the Transcription in Prokaryotes?

RNA polymerase

Which Enzyme is encoded by the Gene HGD affected in Alkaptonuria, beeing responsible for the conversion of homogentisic acid into malwy-lacetoacetate?

Which Enzyme is responsible for cutting the primers in Okazaki fragments of E.Coli on a lagging strand?

Which Enzyme is responsible for the synthesis of the RNA primer at the DNA strand making it able for DNA polymerase 3 to bind to it to start the replication process?

RNA polymerase or Primase

Which Enzyme removes the RNA nucleotides of primer from 5' end and replaces them with DNA nucleotides?

DNA polymerase I

Which Enzyme synthezises mRNAs and some of the snRNAs?

DNA polymerase II

Which Enzyme synthezises new DNA by using the parental DNA as template and adding nucleotides to RNA primer or DNA strand?

DNA polymerase III

Which factor don't cause mutations

Which forms does the Ribosome in Eukaryotes have?

Which forms does the Ribosome in prokaryotes have?

Which forms of the inherited blood disorders caused by absence or reduction of globin chain synthesis is NOT caused by ß-Thalassaemia?

Which Gene is affected in Alkaptonuria?

Which Gene is mutated in Albinism

Which Genes are NOT affected in Ehlers-Danlos Disease?

Which genetic disorder is characterized by the loss of the maternal segment on chromosome 15 (maternal) or by the father distributing 2 instead of 1 chromosome 15 (uniparental)?

Which genetic disorder is characterized of the partial deletion of the short arm of chromosome 4, karyotype: (46,XX,4p- - 46, XY, 4p-)?

Which genetic disorder is mainly characterised by unusual patterns of discoloured skin ?

Which genetiv disorder is caused by a microdeletion in the long arm of the paternal chromosome 15?

Which Histones are part of the Histone Octamer of a NCP?

Which if the following disorders have recessive inheritance?

Which mechanism is responsible for a large variety of antibodies?

Which mRNA Triplet was changed to another leading to the production of ... instead of Glycine and thereby causing Achondroplasia?

Which nitrogenous bases are purines?

Which nitrogenous bases are pyrimidines?

Which nucleotide is normally exchanged in Silent mutation because it is less specific for the coded AminoAcid?

Which of the equation indicates the quantity of base pairs in the DNA? 

Which of the following are matched correctly?

Which of the following codons cannot be recognized by a tRNA molecule?

Which of the following diseases are NOT autosomal dominant?

Which of the following diseases are NOT autosomal recessive?

Which of the following diseases is a sex-linked disease characterized by marked weakness and wasting of the muscles?

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