Genetic diagnostics: Glossary and tips

  • Chromosome: Structure with all genomes ( genes ), which consists of one molecule of DNA and many proteins and is visible in the microscope as part of the nuclear division processes. Every human cell has a chromosome set of 46 chromosomes in the cell nucleus, each half of which comes from mother or father.
  • DNA, DNA, abbreviation for engl. Deoxyribonucleic acid or deoxyribonucleic acid: nucleic acid in the cells of living organisms that stores all the genetic information for biological development. It consists of two long molecular chains (double helix) winding helically about an imaginary axis - comparable to a rope ladder wound around the longitudinal axis. The molecular chains consist in turn of individual components (nucleotides): the "conductor strands" of sugar and phosphoric acid molecules, the "sprouts" of nitrogen-containing bases. DNA has the ability to double identically. It consists not only of genes (so-called coding DNA sequences), but also of areas that contain information for protein synthesis, as well as those with previously unknown function.
  • Gene, genetic make-up: Section on the DNA of a chromosome that uses a translation key ("genetic code") derived from the nucleotides to determine how a particular protein is assembled. Here is the genetic information, which is passed through the propagation to the offspring.
  • Genome: the entire DNA of a cell. The genome consists of 20, 000-40, 000 genes as well as a whole series of other sections with different functions.
  • Nucleotide: smallest building blocks of the molecular chains in the nucleic acids . In DNA, they consist of a sugar and a phosphoric acid molecule as well as one of four different bases.
  • Nucleic acid: long molecular chain of nucleotides . Serves as a carrier of genetic information ( DNA ), but also has other functions in the organism (eg signal transmission, catalyst of biochemical reactions).
  • PCR, abbreviation for engl. Polymerase Chain Reaction, Polymerase Chain Reaction: A method of artificially amplifying sections of DNA using an enzyme (DNA polymerase). This procedure is the basis of many tests in gene diagnostics.
  • (DNA) sequencing: Determination of the sequence of nucleotides in a DNA molecule (sequence). From such a sequence depends on which amino acid and thus which protein is produced.
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