Study Of Genotype And Phenotype Among Uyghur Children With 21- Hydroxylase Deficiency In Xinjiang

Objective:To investigate the frequency of gene mutations and genotype-phenotype correlation in Xinjiang 21-OHD Uyghur children.Methods:From October 2013 to October 2014, 20 Uyghur children with 21-OHD were recruited. Sanger sequencing combined with multiplex ligation-dependent probe ampli-fication(MLPA) were used to detect the mutations of CYP21A2 gene, which encode the 21- hydroxylase. Furthermore, on the basis of the mutations, the CAH patients were divided into different groups to analyze the consensus of predicted phenotype based on the genotype and observed phenotype.Results:9 mutations were found in 20 patients, 8 of which were identified as Del, conv, I2 g, I172 N, Cluster E6, 8-bp del, V281 L, R356 W, while the role of intron5 mutation[c.651+37A>G] in the pathogenesis was uncertain. Most of the predicted phenotype and clinical phenotype show that conformity exceeds 67%. According to the V281 L, P30 L mutation, the coincidence of predicted phenotype with clinical phenotype was low(33%).Conclusion:The genotype and phenotype of 21-OHD have good correlation, and the clinical phenotype can be predicted by detecting the disease-causing genotype. The new mutation [c.648+37A>G] may be related to the pathogenesis of 21-OHD.