Armstrong J G, Davies D R, Guy S P, Frayling I M, Evans D G
Department of Medical Genetics, St. Mary's Hospital, Manchester, UK.
Hum Mutat. 1997;10(5):376-80. doi: 10.1002/(SICI)1098-1004(1997)10:5<376::AID-HUMU7>3.0.CO;2-D.
We have investigated a series of FAP patients in the Northwest of England in order to identify and characterise the specific APC mutations. Using SSCP, we found 27 mutations in a total of 50 families investigated. The mutations were predominantly frameshift or nonsense mutations and there were two splice site changes. We have described two patients with severe Gardner's phenotype from different ethnic backgrounds who share the same mutation at codon 1537. Although the frequency of the most common mutation appears low, it is not dissimilar to that reported by other groups.
我们对英格兰西北部的一系列家族性腺瘤性息肉病（FAP）患者进行了研究，以鉴定和表征特定的腺瘤性息肉病（APC）基因突变。通过单链构象多态性分析（SSCP），我们在所研究的总共50个家族中发现了27种突变。这些突变主要是移码突变或无义突变，还有两个剪接位点变化。我们描述了两名来自不同种族背景、具有严重加德纳表型的患者，他们在密码子1537处存在相同的突变。尽管最常见突变的频率似乎较低，但与其他研究小组报告的频率并无差异。
