Olschwang S, Laurent-Puig P, Thuille B, Thomas G
Laboratoire de Genetique des Tumeurs, Institute Curie, Paris, France.
Hum Genet. 1992 Sep-Oct;90(1-2):161-3. doi: 10.1007/BF00210765.
We have studied the DNA from 170 individuals affected with familial adenomatous polyposis and from 20 uneffected individuals. Denaturing gradient gel electrophoresis of polymerase chain reaction amplified DNA from the adenomatous polyposis coli (APC) gene demonstrated three major patterns consistent with the existence of two different sequences in exon 13 of the gene in the human population. Direct sequencing of the amplified product from DNAs producing these three patterns confirmed the presence of a polymorphism in the coding region of the APC gene.
我们研究了170名患有家族性腺瘤性息肉病的个体以及20名未受影响个体的DNA。对腺瘤性息肉病（APC）基因的聚合酶链反应扩增DNA进行变性梯度凝胶电泳，结果显示出三种主要模式，这与该基因第13外显子在人类群体中存在两种不同序列相一致。对产生这三种模式的DNA扩增产物进行直接测序，证实了APC基因编码区存在多态性。
