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目的为揭示Ｐｆｅｉｆｅｒ综合征的分子病理缺欠。方法采用ＳＳＣＰ－ＤＮＡ直接测序及ＰＣＲ－限制性内切酶酶切技术，对４个Ｐｆｅｉｆｅｒ综合征家系的外周血ＤＮＡ进行了分析。结果２个家系是由ＦＧＦＲ２基因突变所致：１例发生在ＦＧＦＲ２基因第８内含子３′剪切位点部位Ａ→Ｇ突变；１例为ＦＧＦＲ２基因第９外显子Ａｓｐ３２１Ａｌａ突变。另外１个家系是由ＦＧＦＲ１基因第５外显子Ｐｒｏ２５２Ａｒｇ突变所致。结论该项研究结果表明了Ｐｆｅｉｆｅｒ综合征的遗传异质性，为该病的病因学研究和临床研究提供了有用的资料
Objective To reveal the molecular pathological defects of Pfeifer’s syndrome. Methods The peripheral DNA of four Pfeifer syndrome pedigrees was analyzed by SSCP-DNA direct sequencing and PCR-restriction endonuclease digestion. Results Two families were caused by mutations of FGFR2 gene: one occurred in the A → G mutation at the 3 ’splice site of intron 8 of FGFR2 gene and one mutation of Asp321Ala in exon 9 of FGFR2 gene. The other one was caused by mutation of Pro252Arg of exon 5 of FGFR1 gene. Conclusions The results of this study demonstrate the genetic heterogeneity of Pfeifer’s syndrome and provide useful information for the etiology and clinical studies of the disease