A Study On PLCD1Gene Mutation Related To Hereditary Leukonychia Totalis In A Chinese Family

Objective:The research on hereditary leukonychia totalis is relative fewer.Domestic scholars found that there was a relationship between keratin17gene mutations and clinical phenotype of hereditary leukonychia. Toanalyze the candidate genes KLF7and CPO mutations in autosamaldominant pedigrees of leukonychia, we selected the V crystallin protaingene-CRYGA, CRYGB, CRYGC and CRYGD as candidate genes toexplore the correlation between the four genes and the incidence of thispedigrees of leukonychia. We excluded the gene coding regions andnearby intron in leukonychia family.Methods:Extracting the genomic DNA and amplifying the keratin-relatedgenes around D12S398to detect whether there are gene mutations. wealso used histopathology and immunohistochemmistry to detect thechanges of disordered nails. In all, we determined mutations gene ofhereditary leukonychia totalis and the morphological changes of it.Results:1.hereditary leukonychia totalis related genes PLCD1primer designsuccess.2.hereditary leukonychia totalis related genes PLCD1amplification of success.3.No mutation of hereditary leukonychia totalis related genesPLCD1is found in the family. Conclusion:This study extracts the amplified PLCD1product on3p22.2site,with reference to the primer sequence, amplified section, length andcorresponding renaturation temperature, the primer design is successful.For the sake of following sequence measurement of the amplificationproduct and discovery of disease-causing gene mutation, some essentialan effective advance works should be accomplished. The study showsthe molecular control and development of genes on3p22.2site for thenail growth, and confirms the involvement of such genes into thehereditary leukonychia, which indicates the importance of thecompletely new genes for nails growth in human’s herediatary genes.Bymeans of designing the amplified PLCD1product on3p22.2site, wecarried out the gene mutation detection on the keratin concerning theheredtary leukonychia, above research will contibute to our whole studyon keratin and of great social value, especially for the accumulation offoundamental materials on the area of Chinese people. Merely when werealise the wide existance of keratin in human’s epithelial cell,we canensure the hereditary cutaneous condition has certain relations with thekeratin gene mutation.The hereditary and non-hereditary disease causedby the keratin expression and structural abnormality imposes seriousinfluence on the human being’s health. In view of above, we couldsummarize the study as follows:1.The author select the PLCD1Exon2-15genes from the specifiedhereditary leukonychia totalis genes to execute the mutation detection,and take the serum DNA of the family affected by heredtary leukonychiaas template, after the measurement on above15exons and partial flank base, no mutation site was detected.2.The relation between PLCD1genes and hereditary leukonychiahas been eliminated after preliminary study, it’s concluded that PLCD1gene is no the disease-causing genes for this family.3.The disease-causing gene of hereditary leukonychia maybe fromthe introns of other genes within the specified scope, further detectionneeds to be performed.In conclusion, the proposal of carrying out gene mutation detectionon the PLCD1adjacent to3p22.2site, in particular the detailed study onthe hot spot of gene mutation and determine the disease-causing genesfor the hereditary leukonychia will lay the foundation for nail diseaseand relevant keratin disease. Moreover, such study also plays animportant role on curing other disease and recovering the genesassociated with the growth genes of human nails.