中国当代儿科杂志Issue(2)：141-146,6.DOI:10.7499/j.issn.1008-8830.2016.02.009
新疆维吾尔族儿童21-羟化酶缺乏症基因型与表型的研究
Genotypes and phenotypes in Uygur children with 21-hydroxylase deficiency in Xinjiang, China
摘要
Abstract
ObjectiveTo investigate gene mutations and the relationship between genotypes and clinical phenotypes in Uygur children with 21-hydroxylase deifciency (21-OHD) in Xinjiang, China.MethodsA total of 20 Uygur children with 21-OHD who visited the hospital between October 2013 and October 2014 were enrolled. Full-length direct sequencing and multiplex ligation-dependent probe ampliifcation (MLPA) were used to detect the mutations of CYP21A2 gene, which encoded 21-hydroxylase. According to the type of mutation, the patients with 21-OHD were divided into different groups to analyze the consistency between predicted clinical phenotypes and actual clinical phenotypes.ResultsA total of 9 mutation types were found in the 20 patients, and 8 of them were identified as pathogenic mutations, i.e., Del, conv, I2g, I172N, Cluster E6, 8-bp del, V281L, and R356W. The other mutation is the new mutation occurring in intron 5 (c.648+37A>G), which had not been reported, and its pathological significance remains unknown. Most clinical phenotypes predicted by mutation types had a higher coincidence rate with actual clinical phenotypes (above 67%), and the clinical phenotypes predicted by P30L and V281L had a lower coincidence rate with actual clinical phenotypes (below 33%).ConclusionsThe genotype of 21-OHD has a good correlation with phenotype, and the clinical phenotype can be predicted by detecting the patient’s genotype. The new mutation (c.648+37A>G) may be related to the pathogenesis of 21-OHD.关键词
维吾尔族/21-羟化酶缺乏症/基因型/表型/儿童Key words
Uygur/21-Hydroxylase deifciency/Genotype/Phenotype/Child引用本文复制引用
李静,罗燕飞,米热古丽·买买提..新疆维吾尔族儿童21-羟化酶缺乏症基因型与表型的研究[J].中国当代儿科杂志,2016,(2):141-146,6.基金项目
国家自然科学基金（81360139）。 （）
