OBJECTIVETo identify potential disease-causing mutation in the COL2A1 gene in a Chinese family affected with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC; OMIM 183900) and to analyze the phenotype-genotype correlation.

METHODSComplete physical, and radiographic examinations of 4 affected individuals from the family were conducted. Genomic DNA was isolated from peripheral blood leukocytes. Whole-exome sequencing was performed using a HiSeq2000 sequencer. All 54 exons and exon-intron boundaries of the COL2A1 gene were amplified by polymerase chain reaction (PCR) and bidirectionally sequenced.

RESULTSAll of the 4 individuals were found to carry a novel missense mutation of c.2224G>A (p.Gly687Ser) in the COL2A1 gene, while the same mutation was not found in the normal members of the family and 50 healthy controls. Protein prediction of missense mutation by Polyphen-2 and SIFT software indicated severe damage to the function.

CONCLUSIONThe mutation c.2224G>A (p.Gly687Ser) of the COL2A1 gene is responsible for this family. There are heterozygous of phenotype for the mutation.

Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Collagen Type II ; genetics ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Osteochondrodysplasias ; congenital ; genetics ; Pedigree ; Point Mutation ; Young Adult

Objective:To explore the effects of quality-sensitive indicators in the management of disinfection supply room.Methods:The management model modified based on quality-sensitive indicators was applied in the Disinfection Supply Room of the Second Affiliated Hospital of Fujian Medical University since October 2016. The pass rate of the instrument inspection and the quality indicators of the disinfection supply room before and after modification were compared.Results:The pass rates of instrument inspection and Bowie-Dictest in the disinfection supply room after modification were better than those before modification ( P<0.01) . After modification, the qualification of the disinfection supply room in terms of instrument recovery, washing, packaging, item distribution and sterilization was better than that before modification ( P<0.05) . Conclusions:In the prevention of nosocomial infection in the disinfection supply room, the application of quality-sensitive indicators can effectively improve the qualification in instrument recovery, washing, packaging and sterilization, thus ensuring the quality of device disinfection.