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目的探讨新疆维吾尔族苯丙酮尿症(phenylketonuria,PKU)患儿苯丙氨酸羟化酶(phenylalanine hydroxylase,PAH)基因第3外显子的突变情况及突变特征,为临床诊疗提供理论参考。方法应用PCR产物直接测序的方法对新疆南疆地区确诊的37例维吾尔族PKU患儿和40例健康维吾尔族新生儿PAH基因第3外显子及内含子衔接区进行序列分析,以确定其突变位点。结果在37例维吾尔族患儿的74条染色体中共检测到了2种突变,12个PAH基因突变位点,分别为位于第3外显子p.A104D(c.311C>A)和第3内含子区域IVS3-22C>T(c.353-22C>T);其中IVS3-22C>T为此次检测相对高检出的突变位点占总例数的18.9%。两种突变的性质分别为错义突变和静默突变。结论明确了新疆维吾尔族PKU患儿PAH基因第3外显子及内含子衔接区的突变种类和特征,为深入研究和临床诊断维吾尔族PKU奠定基础。
Objective To investigate the mutation and mutation of exon 3 of phenylalanine hydroxylase (PAH) gene in children with phenylketonuria (PKU) in Xinjiang Uygur and to provide theoretical reference for clinical diagnosis and treatment. Methods The sequence analysis of PAH gene exon 3 and intron junction region of 37 Uygur PKU patients and 40 healthy Uygur neonates diagnosed in southern Xinjiang was performed by direct sequencing of PCR products. Mutation site. Results Two mutations and 12 PAH gene mutations were detected in 74 chromosomes of 37 Uyghur children, located in the third exon p.A104D (c.311C> A) and the third containing Sub-region IVS3-22C> T (c.353-22C> T); IVS3-22C> T for this test is relatively high detection of mutations accounted for 18.9% of the total number of cases. The nature of the two mutations were missense mutation and silent mutation. Conclusions The types and characteristics of mutations in PAH gene exon 3 and intron junction region of PKU children in Xinjiang Uygur were clarified, which laid the foundation for the further study and clinical diagnosis of Uygur PKU.