Abstract：Objective To study the characteristics of the mutations of exon6 in phenylalanine hydroxylase gene in south region of Xinjiang Uighurs. Methods The mutations in exon6 of the PAH gene were detected by PCR and DNA sequencing in 27 Uighurs patients with PKU. Results By sequencing analysis, there are 3different, a total of 22 mutations in 54 PAH alleles. The mutations were p.R176X（c526C>T）nonsense, p.EX6-96A>G（c.611A>G）splice, p.Q232Q（c.696A>G）silent.The p.Q232Q mutations was the highest in this examination. Conclusion The mutation characteristics in exons6 of the PAH gene in south region of Xinjiang Uighurs have been identified,and it may lay the foundation for further research.
王慧琴,苟荣,张晓玲,赵宗峰,张艳君,依布拉音. 新疆南疆地区维吾尔族苯丙酮尿症患儿苯丙氨酸羟化酶基因第6外显子突变研究[J]. 实用预防医学, 2015, 22(4): 495-496.
WANG Chang-min, WANG Hui-qin, ZHANG Xiao-ling, ZHAO Zong-feng, ZHANG Yan-jun.. Studies on the mutations of exon6 in phenylalanine hydroxylase gene in south region of Xinjiang Uighurs. , 2015, 22(4): 495-496.
2015, Vol. 22 
