ABSTRACT
Bartter's syndrome is a heterogeneous disorder characterized by deficient renal reabsorption of sodium and chloride, and hypokalemic metabolic alkalosis with hyper-reninemia and hyperaldosteronemia. Bartter syndrome type III [BS type III], due to mutations in the CLCNKB gene, is highly variable. The aim of our study was to describe the clinical presentation in a Chinese girl with BS type III and to explore mutations or SNPs of CLCNKB gene in her family. The clinic data of the patient was collected. Mutations or SNPs were investigated by sequencing of the exon of CLCNKB gene. The clinic analysis confirmed the diagnosis of BS type III. The coexistence of 13 reported SNPs and 11 novel SNPs of CLCNKB gene were found in the patient and her parent. A novel heterozygous C to G transition at nucleotide 2471 in exon 20 of CLCNKB gene harbored uniquely by the patient were revealed. A novel heterozygous C to G mutation at nucleotide 2471 of CLCNKB gene and some new SNPs were identified in a Chinese girl with BS type Ill having persistent hypokalemia. The novel mutation and SNPs make the genetic background of the patient more complicated
Subject(s)
Humans , Female , Mutation , Polymorphism, Single Nucleotide , Chloride Channels , HypokalemiaABSTRACT
Objective To establish the specific 16S 23S rRNA gene spacer regions map of different bacteria by PCR, RFLP(restriction fragment length polymorphism ),DNA clone and sequences analysis. Methods A pair of primer was selected from highly conserved sequences adjacent to the 16S 23S rRNA spacer region. The farget rRNA regions from 61 strains of standard bacteria and corresponding clinical isolates representing for 20 genera and 26 species were amplified by PCR,and thereafter analyzed RFLP, DNA clone and sequences analysis.Meanwhile, all the specimens were examined by bacterial culture and PCR RFLP analysis. Results 26 different standard strains presented one band,two bands,three bands and more than three bands respectively, the sensitivity of which reached 2.5 CFU and had no cross reaction to the human genomic DNA,fungus and virus.14 species could be distinguished immediately by PCR, other 10 species must be identified by further Hinf I or Alu I digestion. K.pneumoniae and E.durans differentiate only at the site of 779 th nucleotide according to the sequence analysis, and only one enzyme Xma III could discriminate them.15 specimens from 42 septicemic neonates were blood culture positive and the positive rate was 35.7%. However, 27 specimens were positive by PCR and the positive rate was 64.2%,which was significantly higher than that of the blood culture( P