Gene Mutation Analysis Of A Pedigree With Hereditary Leukonychia Totalis

Objective: To study γ-crystallin genes (CRYGA, CRYGB, CRYGC and CRYGD) gene mutation in a pedigree with autosomal dominant hereditary leukonychia totalis, investigate the association between these four genes and the leukonychia totalis of the family.Methods: A Chinese family with autosomal dominant hereditary leukonychia totalis were examined. Blood samples were taken from the subjects for genomic DNA preparation. Extract the gonomic DNA and all exons of the four genes were amplified using polymerase chain reaction and then subjected to automatic DNA sequencing to find the mutation.Results: Five sequence variances were found in this family: 2466C>A (rs2441351) in CRYGA. 3088 T>C (rs796288) and 3322 A>C (rs796287) in CRYGB, 3322A>C, nucleotide variances lead to amino acid substitution: from Ile to Leu. There's no variance found in CRYGC. 2577A> G(rs2305430) in CRYGD, this variance do not lead to amino acid substitution, and 2829 T>C (rs2305429) in CRYGD. All the five single nucleotide polymorphisms (SNP) can be found in either patients or normal persons in this pedigree, so no pathopoiesia mutation was found in all exons and their flanking sequences of the four genes.Conclusion: Five sequence mutations of γ-crystallin genes-CRYGA, CRYGB, CRYGC and CRYGD were found in this pedigree with autosomal dominant hereditary leukonychia totalis. The mutations of exons and their flanking sequences of γ-crystallin genes were not the reason of the family with the disease.