The spelling of "Trinucleotide Repeat Expansions" can be deciphered through its IPA phonetic transcription. "Tri" is pronounced as /traɪ/ which represents the English "ai" sound. "Nucleotide" is pronounced as /ˈnjuːkliəˌtaɪd/, with the emphasis on the second syllable. "Repeat" is pronounced as /rɪˈpiːt/ with the emphasis on the first syllable. "Expansion" is pronounced as /ɪkˈspænʃən/ with the emphasis on the second syllable. Understanding the phonetic transcription can help in pronouncing and spelling complex scientific terms accurately.
Trinucleotide repeat expansions refer to a specific type of genetic mutation characterized by the abnormal repetition of a three-nucleotide sequence within a gene. These repeats occur within specific regions of the DNA sequence known as microsatellite regions. The most common trinucleotide repeats include CGG, CAG, CTG, and GAA.
In normal individuals, these trinucleotide repeats have a stable and limited number of repetitions, typically ranging from 5 to 40 copies. However, in certain genetic disorders, these repetitive sequences undergo an expansion where the number of repeats exceeds the typical range. This expansion occurs during DNA replication and results in an unstable gene structure.
Trinucleotide repeat expansions are implicated in a group of genetic disorders known as repeat expansion disorders or trinucleotide repeat disorders. Some examples of disorders caused by trinucleotide repeat expansions include fragile X syndrome (caused by CGG repeat expansion), Huntington's disease (caused by CAG repeat expansion), myotonic dystrophy (caused by CTG repeat expansion), and Friedreich's ataxia (caused by GAA repeat expansion).
These expanded repeats can exhibit a phenomenon called anticipation, where the number of repeats tends to increase in subsequent generations. This can lead to earlier onset and increased severity of symptoms in affected individuals.
Research on trinucleotide repeat expansions is focused on understanding the underlying mechanisms driving these expansions and developing potential therapeutic strategies to treat or prevent the associated genetic disorders.