Ozcelik H, Antebi Y J, Cole D E, Andrulis I L
Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada.
Hum Genet. 1996 Sep;98(3):310-2. doi: 10.1007/s004390050212.
We describe a heteroduplex analysis for the detection of the 185delAG mutation in the BRCA1 gene. The protein truncation test (PTT) has previously been used to identify many of the mutations in BRCA1 that result in premature termination of the protein. However, we were not able to detect the 185delAG mutation by PTT and suggest that heteroduplex analysis may complement PTT for analysis of BRCA1 mutations. This simple technique may be useful for studies on the prevalence and the penetrance of the 185delAG mutation.
我们描述了一种用于检测BRCA1基因中185delAG突变的异源双链分析方法。蛋白质截短试验（PTT）此前已被用于鉴定BRCA1中许多导致蛋白质过早终止的突变。然而，我们无法通过PTT检测到185delAG突变，并建议异源双链分析可作为PTT的补充用于BRCA1突变分析。这种简单的技术可能有助于研究185delAG突变的发生率和外显率。
