摘要
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 O 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.
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.
