Genetic study of an X-linked agammaglobulinemia pedigree caused by an BTK mutation / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic pathogenesis of X-linked agammaglobulinemia in two patients for clinical diagnosis and family counseling.@*METHODS@#Data was collected from the patients' family including clinical information, blood immunoglobulin level, as well as classification and subgrouping of B lymphocytes. Gene mutations were screened by whole exome sequencing (WES) through next-generation sequencing (NGS), the result was verified with Sanger sequencing.@*RESULTS@#A BTK c.1627T>C (p.Ser543Pro) variant was found in the pedigree. The phenotype and variant have co-segregated in the pedigree. The variant was not found in population database. The variant has affected in the kinase domain which contained no benign variants and is harmful as predicted through bioinformatic analysis.@*CONCLUSION@#BTK c.1627T>C (p.Ser543Pro) is a pathogenic variant contributing to X-linked agammaglobulinemia in this pedigree. Above finding has provided reproduction guidance for this family.

Effect of Butylbenzyl Phthalate(BBP) on Levels of DNA-protein Crosslinks in Hepatic Cells of Mice / 环境与健康杂志

Objective To understand the effect of butylbenzyl phthalate(BBP) on the levels of DNA-protein crosslinks(DPC) in hepatic cells of mice.Methods Twenty-five male Kunming mice were randomly assigned into five groups(n=5).BBP was administered by intraperitoneal injection at doses of 0(control group),125,250,500,1 000 mg/kg respectively for 14 consecutive days.Then the levels of DNA-protein crosslinks were detected.Results DPC coefficient increased with concentration of BBP increasing.Treatments of 500 and 1 000 mg/kg BBP significantly increased the levels of DPC compared with the control group. Conclusion BBP can not cause DPC at low levels(125 mg/kg),but it can cause DPC significantly at high levels(500 and 1000 mg/kg),which may cause serious DNA damages.