Genetic analysis of a child with recessive dystrophic epidermolysis bullosa due to compound heterozygous variants of (COL7A1 gene / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic testing and prenatal diagnosis for a family affected with recessive dystrophic epidermolysis bullosa (RDEB).@*METHODS@#All exons of the COL7A1 gene and their flanking regions were subjected to PCR and Sanger sequencing. Suspected variant was validated in family members, based on which prenatal diagnosis was provided.@*RESULTS@#Sanger sequencing found that the proband has carried two variants of the COL7A1 gene, namely c.7289delC (p.Pro2430Glnfs*36) and c.7474C>T (p.Arg2492*), which were respectively derived from his mother and father. The same variants were not found among 100 healthy controls. By prenatal diagnosis, the fetus was found to have inherited the c.7474C>T (p.Arg2492*) variant from its father.@*CONCLUSION@#The pathogenic variants of the COL7A1 gene of the RDEB family were clarified, based on which prenatal diagnosis was provided.

Correlation of DEFB1 polymorphisms with chronic periodontitis in Henan Han population / 中华医学遗传学杂志

OBJECTIVE@#To investigate the association between the polymorphisms of 5'-UTR -52G/A (rs1799946), -44C/G (rs1800972), -20G/A (rs11362) in DEFB1 gene with chronic periodontitis in Henan Han population.@*METHODS@#Peripheral blood genomic DNA of 436 patients with chronic periodontitis and 440 healthy controls were extracted and subjected to PCR-Sanger sequencing to determine the genotypes of DEFB1 5'-UTR -52G/A (rs1799946), -44C/G (rs1800972) and -20G/A (rs11362). The distribution of genotypes, allele frequencies and risk factors were analyzed by chi-square test and Logistic regression.@*RESULTS@#There was no significant difference between healthy controls and chronic periodontitis in the genotype of -52G/A PCR- (rs1799946) and -20G/A (rs11362) (P> 0.05). While a significant difference was found between healthy controls and chronic periodontitis in -44C/G (rs1800972), the CC and CG genotype rate in the two groups were 64.5%, 82.1% and 28.2%, 14.4% respectively. One-way logistic analysis showed that the CG, GG genotype and allele G might be a protective factor.@*CONCLUSION@#The DEFB1 -44C/G (rs1800972) is associated with chronic periodontitis in Henan Han population, and the -44CG, GG genotype and G allele may be the protective factors of chronic periodontitis in Henan Han population.