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Mutation

mutationsgenetic mutationmutated
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication.
Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements.

Frameshift mutation

frameshiftframeshift mutationsframeshifts
Deletions that do not occur in multiples of three bases can cause a frameshift by changing the 3-nucleotide protein reading frame of the genetic sequence. Deletion of a number of pairs that is not evenly divisible by three will lead to a frameshift mutation, causing all of the codons occurring after the deletion to be read incorrectly during translation, producing a severely altered and potentially nonfunctional protein.
A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three.

Delta (letter)

deltaΔdelta symbol
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication.

DNA

deoxyribonucleic aciddouble-stranded DNAdsDNA
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication.
Of these oxidative lesions, the most dangerous are double-strand breaks, as these are difficult to repair and can produce point mutations, insertions, deletions from the DNA sequence, and chromosomal translocations.

Williams syndrome

Williams-Beuren syndromeWilliamsWilliam's Syndrome
Some medium-sized deletions lead to recognizable human disorders, e.g. Williams syndrome.
Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s.

Genetics

geneticgeneticistgenetically
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication.
These errors create large structural changes in DNA sequence – duplications, inversions, deletions of entire regions – or the accidental exchange of whole parts of sequences between different chromosomes (chromosomal translocation).

Chromosome

chromosomeschromosomalChromosomal number
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication.

Chromosomal crossover

crossing overcrossovercrossing-over
Deletions can be caused by errors in chromosomal crossover during meiosis, which causes several serious genetic diseases.
These are referred to by a variety of names, including non-homologous crossover, unequal crossover, and unbalanced recombination, and result in an insertion or deletion of genetic information into the chromosome.

HCONDELs

hCONDEL
Such deletions in humans are referred to as hCONDELs may be responsible for the anatomical and behavioral differences between humans, chimpanzees and other varieties of mammals like ape or monkeys.
hCONDELs refer to regions of deletions within the human genome containing sequences that are highly conserved among closely related relatives.

Genetic code

codoncodonsencoded
Deletion of a number of pairs that is not evenly divisible by three will lead to a frameshift mutation, causing all of the codons occurring after the deletion to be read incorrectly during translation, producing a severely altered and potentially nonfunctional protein.
Mutations that disrupt the reading frame sequence by indels (insertions or deletions) of a non-multiple of 3 nucleotide bases are known as frameshift mutations.

Cystic fibrosis transmembrane conductance regulator

CFTRΔF508CFTR gene
Deletions are responsible for an array of genetic disorders, including some cases of male infertility, two thirds of cases of Duchenne muscular dystrophy, and two thirds of cases of cystic fibrosis (those caused by ΔF508).
DeltaF508 (ΔF508), full name CFTRΔF508 or F508del-CFTR ( rs113993960), is a specific mutation within the CFTR gene involving a deletion of three nucleotides spanning positions 507 and 508 of the CFTR gene on chromosome 7, which ultimately results in the loss of a single codon for the amino acid phenylalanine (F).

Spinal muscular atrophy

Werdnig–Hoffmann diseaseSMAKugelberg–Welander disease
Deletions in the SMN-encoding gene cause spinal muscular atrophy, the most common genetic cause of infant death.
In individuals affected by SMA, the SMN1 gene is mutated in such a way that it is unable to correctly code the SMN protein – due to either a deletion occurring at exon 7 or to other point mutations (frequently resulting in the functional conversion of the SMN1 sequence into SMN2).

Indel

indelsinsertions and deletionsdeletion
Indel is a molecular biology term for an insertion or deletion of bases in the genome of an organism.

Microdeletion syndrome

chromosomal microdeletion disordersmicro deletion syndrome
Microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb).

Null allele

null mutationnull mutantnull alleles
A null allele cannot be distinguished from deletion of the entire locus solely from phenotypic observation.

Chromosomal deletion syndrome

chromosome deletion
Chromosomal deletion syndromes result from deletion of parts of chromosomes.

Chromosome abnormality

chromosomal abnormalitieschromosome abnormalitieschromosomal abnormality

End-sequence profiling

BAC
Other computation methods were selected to discover DNA sequencing deletion errors such as end-sequence profiling.

Meiosis

meioticsyzygymeiosis I
Deletions can be caused by errors in chromosomal crossover during meiosis, which causes several serious genetic diseases.

Genetic disorder

genetic diseasegenetic disordersgenetic diseases
Deletions can be caused by errors in chromosomal crossover during meiosis, which causes several serious genetic diseases.

Eukaryote

Eukaryotaeukaryoticeukaryotes
Deletions are representative of eukaryotic organisms, including humans and not in prokaryotic organisms, such as bacteria.

Prokaryote

prokaryoticprokaryotesprokaryotic cells
Deletions are representative of eukaryotic organisms, including humans and not in prokaryotic organisms, such as bacteria.

Synapsis

presynapticsynapsedsynaptic
For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop.