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

In which stage of Prophase I does crossing over occur and the four chromatid structure is now beeing called Tetrads ?

Achondroplasia is caused by mutation of 

An Enzyme of E.coli that prevents formation of supercoils in DNA during replication

Girase

Amino Acids are carried to the site of protein synthesis by

The Barr body IS NOT 

An individual with the karyotype 46, XXXY is

DNA methylation IS NOT: 

An overelasticity of f.ex. the wrist joint is characteristic of:

At what age does Hutchinson-Gilford progeria syndrome start to show:

The karyotype showing translocation of the short arm of chromosome 4 on the long arm of chromosome 13 is denoted as 

At the beginning of the DNA transcription, RNA polymerase binds to:

At which side is the Peptidyl Transferase located in Eukaryotes and Prokaryotes?

The term “balanced translocation” means that 

At what point can we declare a phenotype as a male

Substitution is 

At which site of the large ribosomal subunit does a new charged tRNA attach?

A-side

At which side of the large ribosomal subunit does the Aminoacid of the previous tRNA connect to the next tRNA Aminoacid via a peptide bond?

P-side

Paracentric inversion of the chromosomal fragment located between the subbands 1 and 6 within band 2 of the chromosome 3, can be written as follows: 

At which stage of the cell cycle can duplication occur?

Attenuation-type gene expression control can be found

Small pigmented skin lesion (caffe-au-lait) are typical symptoms for: 

Avoids and Relieves overwinding of strand ahead of replication fork by swivelling, breaking and rejoining DNA strands:

Topoisomerase 

Because each Okazaki fragment has its own primer and therefore missing Nucleotides ... removes the RNA primers on the synthezised Okazaki fragments and replaces the missing nucleotides. 

DNA polymerase 1

Long QT syndrome (autosomal dominant) is a disease caused by 

Blood in the stool or urine, bleeding into joints and associated pain and swelling and bruising are characteristic for?

Both arm are at the same length, the centromere is central. What is the type of chromosome?

What is the probability that a girl will have vitamin D resistant rickets (Dominant X-linked) if her father is affected and a mother is healthy? 

By Defintion DNA + Histone is equal to

Chromatin

Catalyzes the translocation of the tRNA and mRNA down the ribosome at the end of each round of polypeptide elongation and is thereby the counterpart of the prokaryotik EF-G?

eEF2

CFTR gene encodes protein which:

Cellular Organelles (other than Nucleus) containing DNA

Mitochondria

Neonatal and feeding problems in infancy, subsequently turning into hyperphagie are characteristic

for: 

Changing the Codon UGG to UAA represents?

Choose only point mutations?

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

Choose the group of elements, which are active in translation:

The condition found mostly in plants where there are more than 2 sets of chromosomes per cell is called: 

Choose the correct karyotype for Patau syndrome:

The normal size of the body and red color of eyes in Drosophila melanogaster are determined by dominant alleles which are located 12 map units apart on X chromosome. The following percentage of white-eyes dwarf flies in the F2 generation will result if a red-eyes, dwarf fly crossed with white-eyes fly with normal body: 

Choose the sentence characteristic for Angelmann’s:

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