Podralska Marta Joanna, Stembalska Agnieszka, Ślęzak Ryszard, Lewandowicz-Uszyńska Aleksandra, Pietrucha Barbara, Kołtan Sylwia, Wigowska-Sowińska Jadwiga, Pilch Jacek, Mosor Maria, Ziółkowska-Suchanek Iwona, Dzikiewicz-Krawczyk Agnieszka, Słomski Ryszard
Institute of Human Genetics of the Polish Academy of Sciences Poznań, Poland.
Department of Genetics, Wroclaw Medical University Wroclaw, Poland.
Mol Genet Genomic Med. 2014 Nov;2(6):504-11. doi: 10.1002/mgg3.98. Epub 2014 Jul 30.
Inherited biallelic mutations of the ATM gene are responsible for the development of ataxia telangiectasia (AT). The objective of the present study was to conduct molecular analysis of the ATM gene in a cohort of 24 Polish patients with ataxia-telangiectasia with aim being to provide an updated mutational spectrum in Polish AT patients. As a result of molecular analysis, the status of recurrent mutation was confirmed and ten new ATM variants were detected. Application of MLPA analysis allowed the detection of large genomic deletion. Previously, this type of mutation had never been seen in our population. Finally, in silico analysis was carried out for newly detected ATM alterations. In addition, functional analysis was performed to evaluate the effects of intronic variants: c.3402+30_3402+32delATC.
ATM基因的遗传性双等位基因突变是共济失调毛细血管扩张症（AT）发病的原因。本研究的目的是对24名波兰共济失调毛细血管扩张症患者的队列进行ATM基因的分子分析，旨在提供波兰AT患者最新的突变谱。分子分析结果证实了复发性突变的状态，并检测到10个新的ATM变体。MLPA分析的应用使得能够检测到大的基因组缺失。此前，这种类型的突变在我们的人群中从未见过。最后，对新检测到的ATM改变进行了计算机分析。此外，还进行了功能分析以评估内含子变体c.3402+30_3402+32delATC的影响。
