12个碱基对的重复/插入改变可能是一种调控突变。
The 12 base pair duplication/insertion alteration could be a regulatory mutation.
作者信息
Robledo M, Osorio A, Sentís C, Albertos J, Estevez L, Benítez J
机构信息
Departamento de Genetica, Fundación Jiménez Diaz, Madrid, Spain.
出版信息
J Med Genet. 1997 Jul;34(7):592-3. doi: 10.1136/jmg.34.7.592.
A wide array of mutations now numbering more than 200 have been identified in the BRCA1 gene, one of the two breast cancer susceptibility genes identified so far. In addition, there have been several variants described but it is not known if they really represent functionally significant mutations of the BRCA1 gene. We report evidence to show that the duplication/ insertion of 12 base pairs in intron 20 could have a real effect on expression of the BRCA1 gene, although it was also present in 1% of our control population.
目前已在BRCA1基因中鉴定出大量突变，数量超过200种，BRCA1基因是迄今发现的两个乳腺癌易感基因之一。此外，还描述了几种变体，但尚不清楚它们是否真的代表BRCA1基因的功能显著突变。我们报告的证据表明，第20内含子中12个碱基对的重复/插入可能对BRCA1基因的表达产生实际影响，尽管在我们1%的对照人群中也存在这种情况。
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