Kartagener综合征DNAI1、DNAH5基因研究

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。

The axonemai dynein intermediate-chain 1 gene(DNAI1)and axonemal dynein heavy chain 5 gene(DNAH5)study in children with Kartagener syndrome

Objective To find DNAI1 and DNAH5 gene mutation in children with Kartagener syndrome.Methods Genomic DNA was isolated by standard methods directly from blood samples of 4 Kartagener syndrome children and 2 of the 3 family mumbers.Amplification and sequencing were performed on genomic fragments comprising all 20 coding exons of DNAI1,exons 34,50,63,76,77 of DNAH5 and all their intron/exon junctions.Sequence data were compared with the normal sequence.Results No mutation was found.Conclusion No mutation of all twenty exons of DNAI1,five exons (34,50,63,76,77) of DNAH5 and all their intron/exon junctions was found in these four children sufferring from Kartagener syndrome and their family members free from this disease.