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Objective:To investigate the gene polymorphism in a pedigree of congenital monilethrix.Methods:Genomic DNA of affected members,the normal members of the pedigree and 50 unrelated normal members who came from different regions were extracted with a whole blood genomic DNA extraction kit and used as a template for the polymerase chain reaction (PCR)-mediated amplification of hHB1 and hHB6 genes.Results:In the pedigree,DNA analysis of patients and normal persons revealed C(447th) in exonl of hHB1 gene and the 52th codon was CCA encoding arginine.But it was a heteropeak of G or C in 50 unrelated normal members,which encodes glycine or arginine.It showed that this change was a single nucleotide polymorphisms(SNP).Conclusion:A genetic heterogeneity of monilethrix exists in Chinese population.SNP which can result in the change of amino acid sequence is found in a pedigree of congenital monilethrix,and a genetic heterogeneity of monilethrix existed in Chinese population.