OBJECTIVETo screen for KIT gene mutations in two Han Chinese pedigrees affected with Piebaldism.

METHODSClinical data of the pedigrees was collected. Genomic DNA was extracted from blood samples collected from the pedigrees and 120 unrelated healthy controls. All coding exons of the KIT gene were subjected to PCR amplification and direct sequencing.

RESULTSTwo missense mutations, c.1861G>A(p.Ala621Thr) and c.1872G>A(p.Met624Ile), were identified respectively in the two pedigrees. Neither mutation was found among healthy members from the respective pedigree and the 120 unrelated healthy controls. c.1872G>A is a novel mutation.

CONCLUSIONMutations of the KIT gene may affect the structure and function of the transmembrane receptor KIT, which lead to the disease.

Objective To investigate the relationship between Helicobacter pylori (HP) infection and the development of chronic urticaria.Methods Published case-control studies which concerned HP infection related chronic urticaria were searched in Wanfang,CNKI,CQVIP Chinese databanks and PubMed.Meta-analysis was applied to analyze the pooled odds ratio (OR) and 95％ confidence interval (CI).Results 37 studies which comprised 2 909 cases of chronic urticaria and 1 873 persons served as controls were enrolled.When compared with the controls,HP infection significantly increased the risk of chronic urticaria development with a pooled OR of 3.20 (95％CI:2.31-4.43).Results from Meta-regression analyses showed that the distribution of residential areas and detection method being used were potential influential factors.Conclusion HP infection seemed to be associated with an increased risk of developing the chronic urticaria.