[江西省苯丙酮尿症患者苯丙氨酸羟化酶基因变异研究]
[Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province].
作者信息
Lu Qing, Liu Yanqiu, Yang Bicheng, Xie Kang, Zou Yongyi, Lu Wan, Wang Feng
机构信息
Jiangxi Maternal and Child Health Care Hospital, Nanchang, Jiangxi 330006, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Nov 10;36(11):1057-1061. doi: 10.3760/cma.j.issn.1003-9406.2019.11.001.
OBJECTIVE
To delineate the variants spectrum of phenytalanine hydroxylase (PAH) gene among 78 unrelated patients with phenylketonuria (PKU) from Jiangxi province.
METHODS
The 13 exons and flanking intronic regions of the PAH gene were subjected to PCR amplification and sequencing.
RESULTS
A total of 143 variants were detected among the 156 alleles, which included 54 types of variants, which yielded a detection rate of 91.7%. Common variants have included R243Q (26/143, 18.2%), R408Q (10/143, 7.0%), EX6-96A to G(8/143, 5.6%), IVS4-1G to A(7/143, 4.9%), R241C(7/143, 4.9%) and V399V(7/143, 4.9%). In addition, 6 novel variants were detected, which included IVS4-3T to G, Q172H, C284Y, V291L, V329del, and L430R. The variants consisted of missense, splicing, nonsense and deletion variants, which have mainly located in exons 7 (45, 31.5%), 12(17, 11.9%), 11(16, 11.2%) and 6(14, 9.8%).
CONCLUSION
Variants of the PAH gene identified in Jiangxi province mainly involve exons 7, 12, 11 and 6, with the most common variants being R243Q and R408Q. Six novel variants were identified.
目的
明确江西省78例非亲缘关系苯丙酮尿症（PKU）患者苯丙氨酸羟化酶（PAH）基因的变异谱。
方法
对PAH基因的13个外显子及其侧翼内含子区域进行PCR扩增和测序。
结果
在156个等位基因中共检测到143个变异，其中包括54种变异类型，检出率为91.7%。常见变异包括R243Q（26/143，18.2%）、R408Q（10/143，7.0%）、EX6-96A→G（8/143，5.6%）、IVS4-1G→A（7/143，4.9%）、R241C（7/143，4.9%）和V399V（7/143，4.9%）。此外，还检测到6种新变异，包括IVS4-3T→G、Q172H、C284Y、V291L、V329del和L430R。这些变异包括错义、剪接、无义及缺失变异，主要位于外显子7（45个，31.5%）、12（17个，11.9%）、11（16个，11.2%）和6（14个，9.8%）。
结论
江西省鉴定出的PAH基因变异主要涉及外显子7、12、11和6，最常见的变异为R243Q和R408Q。鉴定出6种新变异。
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