一先天性秃发家系HR和CDSN基因突变的筛查

目的：对山东省一5代30人的先天性秃发家系进行HR、CDSN基因的突变筛查，以期寻找致病基因。方法：收集家系成员的临床资料及血液样本，抽提外周血基因组DNA，进行PCR扩增，采用虾碱性磷酸酶及核酸外切酶对扩增产物进行纯化，然后用ABI PRISM 3700自动测序仪进行测序，最后用Autoassembler软件与基因组序列对比，查找有无突变。结果：未发现突变。但找到12个多态位点，其中11个是首次发现，结论：HR、CDSN基因可能与本先天性秃发家系无关。

The mutation analysis for HR and CDSN gene in a congenital alopecia family

Objective: To identify the mutation of HR gene and CDSN gene in a five-generation family with congenital alopecia including 30 family members in Shandong Province. Methods: The pedigree members' clinical data and blood samples were collected. Afterwards the genomic DNA was extracted. And then the PCR amplification was performed. The products were purified with shrimp alkaline and exonuclease and sequenced by ABI PRISM 3700 DNA analyzer. Finally, the mutation analysis was processed by autoassembler software. Results: The mutation of HR gene and CDSN gene wasn't discovered and 12 foci of polymorphism were found in this pedigree including 11 novel foci. Conclusion: HR gene and CDSN gene may be not responsible for this congenital alopecia pedigree.