Preliminary Genetic Study Of Longitudinal Epiphyseal Bracket

Objective:Longitudinal epiphyseal bracket (LEB) is a rare genetic disease causes finger or toe deformities. In this research, through the follow-up of a genetic pedigree of LEB, we investigate its mode of inheritance and genetic principle, and try to discover its pathogenic factors and the locations.Methods:Through the follow-up of the proband, we investigate a longitudinal epiphyseal brackets pedigree, and accomplish the pedigree chart. After informed consent, we extract peripheral blood from6persons in this family of three generations (including three patients). Specimens obtained are treated as follows:1. Extract blood cells from peripheral blood using conventional methods, after treatments of PHA and colchicines, chromosome morphological examination are finished.2. Peripheral blood DNA extraction kit is employed to get the DNA samples from the specimens. The concentration and purity (OD260/280) of the DNA samples are detected by ultraviolet spectrophotometer. Samples up to the standard are sent to professional genetic laboratory to do comparative genomic hybridization experiments (CGH).3. Peripheral blood DNA extraction kit is employed to get the DNA samples from the specimens. The concentration and purity (OD260/280) of the DNA samples are detected by ultraviolet spectrophotometer. Samples up to the standard are sent to professional genetic laboratory to do further examinations such as single nucleotide polymorphisms (SNP), exon sequencing using DNA microarray technique and so on looking for and try to locate candidate genes.Results:Successfully accomplish the pedigree chart of the family; chromosome examinations reveal no obvious abnormalities in chromosome number and shape; comparative genomic hybridization (CGH) experiment results show that found no duplication and deletion of chromosome fragments, single nucleotide polymorphism test results not vet reached.Conclusion:The pedigree chart and previously report in literature infered Longitudinal Epiphyseal Bracket (LEB) is an autosomal recessive inherited disease. There is no general change found in the chromosome and genome. There is no translocation and inversion in the chromosome. Found no duplication or deletion of chromosome fragments.