Definitions for trinucleotide repeat disorder
trin·u·cleotide repeat dis·or·der

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1. trinucleotide repeat disordernoun

   Any of a group of disorders caused by stretches of DNA that contain a sequence of three nucleotides repeated many times

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1. Trinucleotide repeat disorder

   Trinucleotide repeat disorders, also known as microsatellite expansion diseases, are a set of over 50 genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides (trinucleotide repeats) increase in copy numbers until they cross a threshold above which they become unstable. Depending on its location, the unstable trinucleotide repeat may cause defects in a protein encoded by a gene; change the regulation of gene expression; produce a toxic RNA, or lead to chromosome instability. In general, the larger the expansion the faster the onset of disease, and the more severe the disease becomes.Trinucleotide repeats are a subset of a larger class of unstable microsatellite repeats that occur throughout all genomes. The first trinucleotide repeat disease to be identified was fragile X syndrome, which has since been mapped to the long arm of the X chromosome. Patients carry from 230 to 4000 CGG repeats in the gene that causes fragile X syndrome, while unaffected individuals have up to 50 repeats and carriers of the disease have 60 to 230 repeats. The chromosomal instability resulting from this trinucleotide expansion presents clinically as intellectual disability, distinctive facial features, and macroorchidism in males. The second DNA-triplet repeat disease, fragile X-E syndrome, was also identified on the X chromosome, but was found to be the result of an expanded CCG repeat. The discovery that trinucleotide repeats could expand during intergenerational transmission and could cause disease was the first evidence that not all disease-causing mutations are stably transmitted from parent to offspring.There are several known categories of trinucleotide repeat disorder. Category I includes Huntington's disease (HD) and the spinocerebellar ataxias. These are caused by a CAG repeat expansion in protein-coding portions, or exons, of specific genes. Category II expansions are also found in exons, and tend to be more phenotypically diverse with heterogeneous expansions that are generally small in magnitude. Category III includes fragile X syndrome, myotonic dystrophy, two of the spinocerebellar ataxias, juvenile myoclonic epilepsy, and Friedreich's ataxia. These diseases are characterized by typically much larger repeat expansions than the first two groups, and the repeats are located in introns rather than exons.

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1. Trinucleotide repeat disorder

   Trinucleotide repeat disorders are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where trinucleotide repeats in certain genes exceed the normal, stable threshold, which differs per gene. The mutation is a subset of unstable microsatellite repeats that occur throughout all genomic sequences. If the repeat is present in a healthy gene, a dynamic mutation may increase the repeat count and result in a defective gene. Trinucleotide repeats are sometimes classified as insertion mutations and sometimes as a separate class of mutations.

How to pronounce trinucleotide repeat disorder?

1. Alex

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Numerology

1. Chaldean Numerology

   The numerical value of trinucleotide repeat disorder in Chaldean Numerology is: 4

2. Pythagorean Numerology

   The numerical value of trinucleotide repeat disorder in Pythagorean Numerology is: 6

References

1. ^ Wiktionary
   https://en.wiktionary.org/wiki/Trinucleotide_Repeat_Disorder
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Trinucleotide_Repeat_Disorder
3. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=trinucleotide repeat disorder