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

RF1,RF2, RF3 factors are involved in?

RNA is

RNA molecule is: 

RNA polymerase catalyzes the formation of bonds:

Robertsonian translocation can take places in the chromosomes?

Sickle Cell Anaemia is common in families:

TATA box is found in the so-called ... region

Primer

Strands in DNA molecule are arranged:

Antiparallel

The "Flavr Savr" modification of tomatoes is for

The 3rd triplet in a gene is TTT. A substitution mutation changes it to ATT. State what effect this would have on the resulting protein?

The addition of one diploid set (2n) to diploid genome is called:

The addition of one set of chromosomes (3n) is called:

The aim of Hershey & Chase’s experiment was to show that:

The amount of barr bodies in a women suffering from turners syndroms is?

The Amyloid Precursor Protein Gene, shortly ..., is mutated in which disease?

The attachment of an Amino Acid to the 3' end of tRNA molecule

Charging

The bond connecting two neighbouring nucleotides in one DNA strand?

Phosphodiester

The attachment of SSB proteins to single strands make the replication process ... % faster

The cause of which genetic disorder is a missing or non-functional X-chromosome ?

the centromere is at the end of the chromosome, what is the type of chromosome?

The centromere is near one end, showing a dense appendage called a satelite which is located at the end of the short arm

The centromere is somewhat off-centre, it divides chromosome into a shorter (p) arm and a longer (q) arm

The clinical features of Brushfiel spots are characteristic for: 

The Codon GAG for glutamic acid is replaced by what Codon beeing responsible for the development of sickle cell anaemia?

The common name of the eukaryotic promoter region located about -75bp upstream the start point of transcription

CAT-Box (CCAAT)

The codons UAA, UAG and UGA all code for:

The DNA strands are organized in opposite orientation 5' to 3' and 3' to 5'. They are called to be ... to each other

Antiparallel

The DNA fragment containing information about sime trait of an organism

Gene

The Elongation Factor EF-P has the following job?

The elongation of a polypeptide chain continues until:

The entire genetic code consists of ... amino acids and ... codons

The Enzyme abbreviated EF-Tu is involved in?

The enzyme o´. of RNA polymerase participates in which process? 

The Enzymes with proof-reading and repairing activites during prokaryotic DNA replication are?

The function of a tRNA is to:

The following karyotype is characteristic for (47,XXY / 48, XXXY, 49 etc.)

The fused BCR-ABL gene affected in Philadelphia chromosome is responsible for:

the function of the cell membrane is:

The gain of one haploid set (1n) to diploid genome is called?

The genetic cause of cystic fibrosis is: 

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