RESUMO
<p><b>OBJECTIVE</b>To identify the disease-causing mutation in a Chinese family with brachydactyly type B (BDB).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of family members. Exons 8 and 9 of the ROR2 gene were amplified by polymerase chain reaction (PCR) and sequenced directly. Furthermore, the PCR products showing mutation were cloned into pMD18T vector and the insert fragments were sequenced.</p><p><b>RESULTS</b>A 1398-1399 insA heterozygous mutation was detected in the patient. This mutation had been found in German families with BDB.</p><p><b>CONCLUSION</b>To the authors' knowledge, it is the first report on identification of the ROR2 pathogenic mutation in Chinese patients with BDB.</p>
Assuntos
Feminino , Humanos , Masculino , Sequência de Aminoácidos , Sequência de Bases , China , DNA , Química , Genética , Análise Mutacional de DNA , Saúde da Família , Dedos , Anormalidades Congênitas , Deformidades Congênitas do Pé , Classificação , Genética , Deformidades Congênitas da Mão , Classificação , Genética , Mutagênese Insercional , Mutação , Linhagem , Receptores Órfãos Semelhantes a Receptor Tirosina Quinase , Receptores de Superfície Celular , Genética , Deleção de Sequência , Dedos do Pé , Anormalidades CongênitasRESUMO
<p><b>OBJECTIVE</b>To study the function of 5 single nucleotide polymorphisms (SNPs) of the PRKCZ gene, a susceptibility gene for type 2 diabetes in Han population of North China, in the pathogenesis of the disease.</p><p><b>METHODS</b>Bioinformatic methods and reporter gene activity determination were used to analyze the function of the 5 SNPs.</p><p><b>RESULTS</b>The reporter gene activities of different alleles of 2 SNPs, rs427811 and rs809912, were obviously different, which implies that these 2 SNPs might be susceptibility loci of the disease.</p><p><b>CONCLUSION</b>The PRKCZ gene is further confirmed to be a susceptibility gene for type 2 diabetes in Han population of North China. Two SNPs in the gene play a role in the pathogenesis of the disease by affecting the expression level of PRKCZ gene.</p>
Assuntos
Humanos , Alelos , Povo Asiático , Diabetes Mellitus Tipo 2 , Genética , Etnicidade , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Proteína Quinase C , Genética , Proteína Quinase C-deltaRESUMO
<p><b>OBJECTIVE</b>To search for the disease-associated haplotype in the PRKCZ gene, a susceptibility gene for type 2 diabetes in Han population of North China, by case-control study and linkage disequilibrium (LD) analysis using single nucleotide polymorphisms (SNPs).</p><p><b>METHODS</b>SNPs located in the PRKCZ gene were chosen from public SNP domain by bioinformatic methods and single base extension (SBE) method was used to genotype the loci in 173 sporadic type 2 diabetes patients and 152 normal individuals to perform case-control study and LD analysis. Haplotype block were constructed in these populations.</p><p><b>RESULTS</b>Several SNPs in the PRKCZ gene were found to be associated with the disease. The SNPs formed different haplotype block pattern in case and control groups. The frequencies of the haplotypes formed by 5 SNPs were statistically different between the two groups.</p><p><b>CONCLUSION</b>The haplotype formed by 5 SNPs in the PRKCZ gene may be associated with type 2 diabetes in Han population of China, which is confirmed from statistics to be a susceptibility gene for the disease.</p>