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  2. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.

  3. Genetic disorder - Wikipedia

    en.wikipedia.org/wiki/Genetic_disorder

    A genetic disorder is a health problem caused by one or more abnormalities in the genome.It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality.

  4. Mutation - Wikipedia

    en.wikipedia.org/wiki/Mutation

    Neomorphic mutations are a part of the gain-of-function mutations and are characterized by the control of new protein product synthesis. The newly synthesized gene normally contains a novel gene expression or molecular function. The result of the neomorphic mutation is the gene where the mutation occurs has a complete change in function. [56]

  5. Chromosome abnormality - Wikipedia

    en.wikipedia.org/wiki/Chromosome_abnormality

    A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [ 1 ] [ 2 ] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or ...

  6. De novo mutation - Wikipedia

    en.wikipedia.org/wiki/De_novo_mutation

    However, in rare cases, it can have notable and serious effects on overall health, physical appearance, and other traits. Disorders that most commonly involve de novo mutations include cri-du-chat syndrome, 1p36 deletion syndrome, genetic cancer syndromes, and certain forms of autism, among others. [2]

  7. ‘Alcohol gene’ could predict how cocktails may affect you ...

    www.aol.com/news/alcohol-gene-could-predict...

    If you have an inherited intolerance to alcohol, a mutated gene could be the culprit. An at-home DNA test could detect whether you have the mutation, but doctors say there could be some drawbacks.