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目的寻找Kartagener综合征患儿DNAI1、DNAH5基因突变位点,初步探讨Kartagener综合征的遗传机制。方法2006年12月至2007年3月在首都医科大学附属北京儿童医院临床确诊的4例Kartagener综合征患儿和其中2个家族成员的外周血中提取DNA,并对DNAI1基因的所有20个外显子、DNAH5基因的外显子34、50、63、76、77进行PCR扩增,对扩增产物进行直接测序,测序结果与正常序列比对。结果未发现DNAI1基因外显子、DNAH5基因外显子34、50、63、76、77及相邻内含子剪接位点的突变。结论在研究的4例Kartagener综合征患儿和2个家族中未发现DNAI1基因外显子、DNAH5基因外显子34、50、63、76、77及相邻内含子剪接位点的突变。
Objective To search for DNAI1 and DNAH5 gene mutation in children with Kartagener’s syndrome and to explore the genetic mechanism of Kartagener’s syndrome. Methods From December 2006 to March 2007, DNA was extracted from the peripheral blood of 4 Kartagener syndrome patients and 2 of them, clinically diagnosed in Beijing Children’s Hospital Affiliated to Capital Medical University from December 2006 to March 2007, and all 20 DNAI1 genes Exon, DNAH5 gene exons 34,50,63,76,77 PCR amplification, direct amplification of the product sequencing, sequencing results and normal sequence alignment. The results showed no DNAI1 gene exon, DNAH5 gene exons 34,50,63,76,77 and adjacent intron splice site mutation. Conclusion No DNAI1 exon and DNAH5 gene exons 34, 50, 63, 76, 77 and adjacent intron splice sites were found in 4 cases of Kartagener’s syndrome and 2 families studied.