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中文摘要：
为了探讨现有的两个并指缺指中国家系基因突变情况,以正常人作为对照,应用PCR和DNA直接测序方法,在两个家系（共7位患者）中研究IHH基因3个外显子的突变情况.检测IHH基因编码区以及外显子和内含子交接区与正常对照有无差异,在所有被检成员中,除第3外显子出现序列多肽性外,其余序列均未发现突变.研究认为这两个家系的致病原因并非IHH基因编码区的突变引起.
英文摘要：
This work is to investigate the mutation of two Chinese families with Syndactyly and Adactylism. Polymerase chain reaction and DNA sequencing were used for screening and identifying mutation. Using normal as control, three exons of IHH gene in nomal and two family members （a total of 7 patients） were examined, to detecte the differential DNA sequence in the coding region, and the intron exon boundaries with the exon. There is no mutation detected except polymorphism in the third exon of all samples. The results indicate that the mutation in coding region of IHH gene do not cause human Syndactyly and Adactylism disease in the two families.
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