Mitchell 等 [ 8 ] 报道,已发现的MSH2 突变以 3、7、12 和15 外显子多见,基础突变( founder mutation )以第5 与第 6 外显子之间的内含子多见;已发现的 MLH1 突变以 16、19 和1 外显子多见,并在第15 及16 外显子之间发现一 “突变...
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American Founder Mutation 美国原始突变
While most disease-causing mutated are found in humans at a rate of one in a few thousand to one in a few million people, founder mutation can occur at much higher rates.
虽然大多数致病突变在人类中发现的概率为千分之一到百万分之一,但基础突变发生的几率可能高得多。
Furthermore, the single copy of a founder mutation often confers a survival advantage on carriers.
此外,创始者突变的单一拷贝通常赋予携带者生存优势。
Founder mutations are a class of disease-causing genetic mutations, each derived from its own ancestral "founder" in whom the mutation originated.
创始者突变是一类引起疾病的基因突变,每一种都源自其自身祖先的“创始者”。
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