Everything about Null Allele totally explained
A
null allele is a mutant
copy of a gene that completely lacks that gene's normal function. This can be the result of the complete absence of the
gene product (protein, RNA) at the molecular level, or the expression of a non-functional gene product. At the
phenotypic level, a null allele is indistinguishable from a deletion of the entire
locus.
A mutant allele that produces no protein is called a
protein null (shown by
Western analysis), and one that produces no RNA is called an
RNA null (shown by
Northern analysis or by DNA sequencing of a deletion allele). A
genetic null or
amorphic allele has the same phenotype when homozygous as when heterozygous with a deficiency that disrupts the locus in question. A genetic null allele can be a protein and RNA null, but can also express normal levels of a gene product that's non-functional due to mutation.
Another definition of
null allele concerning molecular markers, refers to such a marker in the case it can no longer be detected because of a mutation. For example,
microsatellites (for example a repetitive sequence of DNA, in which the repeat is rather short) are used as molecular markers amplifying them through
PCR. To do so, a
primer or
oligonucleotide aligns with either of ends of the
locus. If a mutation occurs in the annealing site, then the marker can no longer be used and the allele is turned into a null allele.
One example of a null allele is the 'O' blood type allele in the human A, B and O
blood type system. The
alleles for the A-
antigen and B-antigen are
co-dominant, thus they're both
phenotypically expressed if both are present. The allele for O blood type, however, is a mutated version of the allele for the A-antigen, with a single
base pair change due to
genetic mutation. The
protein coded for by the O allele is enzymatically inactive and therefore the O allele is expressed phenotypically in
homozygous OO individuals as the lack of any blood antigen. Thus we may consider the allele for the O blood type as a null allele.
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