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单词 Trinucleotide repeat expansion
释义

Trinucleotide repeat expansion

英语例句库

HD is caused by a trinucleotide repeat expansion in the Huntingtin (Htt) gene; and is one of several polyglutamine (or PolyQ) diseases.

什么是'少年亨廷顿疾病-遗传性疾病与异常运动和心理的恶化'?

英语百科

Trinucleotide repeat expansion

Trinucleotide repeat expansion, also known as triplet repeat expansion, is the DNA mutation responsible for causing any type of disorder categorized as a trinucleotide repeat disorder. These are labelled in dynamical genetics as dynamic mutations. Triplet expansion is caused by slippage during DNA replication, also known as "copy choice" DNA replication. Due to the repetitive nature of the DNA sequence in these regions, 'loop out' structures may form during DNA replication while maintaining complementary base pairing between the parent strand and daughter strand being synthesized. If the loop out structure is formed from the sequence on the daughter strand this will result in an increase in the number of repeats. However, if the loop out structure is formed on the parent strand, a decrease in the number of repeats occurs. It appears that expansion of these repeats is more common than reduction. Generally, the larger the expansion the more likely they are to cause disease or increase the severity of disease. Other proposed mechanisms for expansion and reduction involve the interaction of RNA and DNA molecules.

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更新时间:2025/6/23 13:43:03