目的:分析Van der Woude综合征一家系的临床和遗传学特征。方法:采集先证者的脐带血和父母的外周血行全外显子组测序,初步确定候选致病基因。收集该家系9位成员的外周血进行Sanger测序验证、生物信息学分析、基因型与表型的相关性分析...目的:分析Van der Woude综合征一家系的临床和遗传学特征。方法:采集先证者的脐带血和父母的外周血行全外显子组测序,初步确定候选致病基因。收集该家系9位成员的外周血进行Sanger测序验证、生物信息学分析、基因型与表型的相关性分析。结果:先证者经超声诊断为唇腭裂,其父亲和祖母有下唇凹陷,其他成员无类似表型。先证者及其父亲、祖母 IRF6 基因第4号外显子均存在c.263A>G(P.N88S)错义突变,其他无表型的家系成员不存在该突变。结论: IRF6 :c.263A>G(p.N88S)错义突变为该家系的致病原因,该突变在中国Van der Woude综合征家系中首次发现。展开更多
Lung cancer is a leading cause of cancer death worldwide. Some lung cancer patients correlate with a gas of radon besides smoking. To search for common chromosomal aberrations in lung cancer cell lines established fro...Lung cancer is a leading cause of cancer death worldwide. Some lung cancer patients correlate with a gas of radon besides smoking. To search for common chromosomal aberrations in lung cancer cell lines established from patients induced by different factors, a combined approach of chromosome sorting, forward and reverse chromosome painting was used to characterize karyotypes of two lung adenocarcinoma cell lines： A549 and GLC-82 with the latter line derived from a patient who has suffered long-term exposure to environmental radon gas pollution. The chromosome painting results revealed that complex chromosomal rearrangements occurred in these two lung adenocarcinoma cell lines. Thirteen and twenty-four abnormal chromosomes were identified An A549 and GLC-82 cell lines, respectively. Almost half of abnormal chromosomes in these two cell lines were formed by non-reciprocal translocations, the others were derived from deletions and duplication/or amplification in some chromosomal regions. Furthermore, two apparently common breakpoints, HSA8q24 and 12q14 were found in these two lung cancer cell lines.展开更多
文摘目的:分析Van der Woude综合征一家系的临床和遗传学特征。方法:采集先证者的脐带血和父母的外周血行全外显子组测序,初步确定候选致病基因。收集该家系9位成员的外周血进行Sanger测序验证、生物信息学分析、基因型与表型的相关性分析。结果:先证者经超声诊断为唇腭裂,其父亲和祖母有下唇凹陷,其他成员无类似表型。先证者及其父亲、祖母 IRF6 基因第4号外显子均存在c.263A>G(P.N88S)错义突变,其他无表型的家系成员不存在该突变。结论: IRF6 :c.263A>G(p.N88S)错义突变为该家系的致病原因,该突变在中国Van der Woude综合征家系中首次发现。
基金supported partly by grants from the Ministry of Science and Technology of China(2005DKA21502)the Joint Foundation of Science and Technology Bureau of Yunnan Province and Kunming Medical University(2007C0024R)
文摘Lung cancer is a leading cause of cancer death worldwide. Some lung cancer patients correlate with a gas of radon besides smoking. To search for common chromosomal aberrations in lung cancer cell lines established from patients induced by different factors, a combined approach of chromosome sorting, forward and reverse chromosome painting was used to characterize karyotypes of two lung adenocarcinoma cell lines： A549 and GLC-82 with the latter line derived from a patient who has suffered long-term exposure to environmental radon gas pollution. The chromosome painting results revealed that complex chromosomal rearrangements occurred in these two lung adenocarcinoma cell lines. Thirteen and twenty-four abnormal chromosomes were identified An A549 and GLC-82 cell lines, respectively. Almost half of abnormal chromosomes in these two cell lines were formed by non-reciprocal translocations, the others were derived from deletions and duplication/or amplification in some chromosomal regions. Furthermore, two apparently common breakpoints, HSA8q24 and 12q14 were found in these two lung cancer cell lines.
