Cystic fibrosis and Single-nucleotide polymorphism

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Difference between Cystic fibrosis and Single-nucleotide polymorphism

Cystic fibrosis vs. Single-nucleotide polymorphism

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. A single-nucleotide polymorphism, often abbreviated to SNP (plural), is a variation in a single nucleotide that occurs at a specific position in the genome, where each variation is present to some appreciable degree within a population (e.g. > 1%).

Alpha helix

The alpha helix (α-helix) is a common motif in the secondary structure of proteins and is a righthand-spiral conformation (i.e. helix) in which every backbone N−H group donates a hydrogen bond to the backbone C.

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Amino acid

Amino acids are organic compounds containing amine (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid.

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Cystic fibrosis transmembrane conductance regulator

Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and chloride channel in vertebrates that is encoded by the CFTR gene.

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DNA sequencing

DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule.

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Gene

In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Locus (genetics)

A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).

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Nonsense mutation

In genetics, a point-nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product.

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Osteoporosis

Osteoporosis is a disease where increased bone weakness increases the risk of a broken bone.

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Polymorphism (biology)

Polymorphism in biology and zoology is the occurrence of two or more clearly different morphs or forms, also referred to as alternative phenotypes, in the population of a species.

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Recombinant DNA

Recombinant DNA (rDNA) molecules are DNA molecules formed by laboratory methods of genetic recombination (such as molecular cloning) to bring together genetic material from multiple sources, creating sequences that would not otherwise be found in the genome.

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Sickle cell disease

Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.

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Stop codon

In the genetic code, a stop codon (or termination codon) is a nucleotide triplet within messenger RNA that signals a termination of translation into proteins.

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