18q21.1q21.32 在患有青少年脑梗塞的患者中删除
Koji Obara1,2, Takumi Inomata1
1Neurology, National Hospital Organization Akita National Hospital, Yurihonjo, JPN.
Cureus
|July 31, 2023
概括
这项研究报告了一种罕见的染色体18q删除综合征病例,与青少年脑梗塞有关,这是以前未经证实的联系. 对被删除基因的进一步研究可能会揭示染色体异常患者中风的原因.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 18q染色体缺失综合征是一种已知的遗传疾病,具有可变的表型,包括智力障碍和先天异常.
- 脑梗塞以前没有与染色体18q的缺失有关.
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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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