Wang Feng-yu, Shao Chu-jun, Feng Hui-gen, Li Cong-min
Genetic Laboratory, People and Family Planning Scientific Research Faculty in Henan Province, Zhengzhou, Henan, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):644-9. doi: 10.3760/cma.j.issn.1003-9406.2010.06.009.
To investigate the characteristics of the phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) in Henan province, China, in order for providing basic information for clinical genetic counseling and prenatal diagnosis.
All the exons and partial flanking introns of the PAH gene were detected by polymerase chain reaction (PCR) and bi-directional sequencing in 34 patients with PKU from Henan province.
A total of 23 different disease-causing mutations were identified which corresponded to 92.65% (63/68) of the PAH alleles, including 12 missense mutations, 4 nonsense mutations, 4 splicing junction mutations, and 3 deletion mutations. Among them, A156P and P69_S70delinsP(delCTT) were novel mutations; IVS2+ 5G to C, G332E, IVS10-14C to G and L367 to Wfs were reported in Chinese population for the first time according to the PAH database (www.pahdb.mcgill.ca). Among all the 13 exons, exon 7 harbored the most type of mutations, exon 11 and exon 5 the second. The most common mutations included R243Q (17.65%, 12/68), V399V (11.76%, 8/68), IVS4-1G to A (8.82%, 6/68), R400T(7.35%, 5/68), Y166X(5.88%,4/68) and G247R(5.88%, 4/68). In addition, 9 other gene variations were found in this study.
The mutation spectrum and frequency of the PAH gene of patients with phenylketonuria in Henan province were slightly different from those from other parts of China.
研究中国河南省苯丙酮尿症（PKU）患者苯丙氨酸羟化酶（PAH）基因突变特征，为临床遗传咨询和产前诊断提供基础资料。
采用聚合酶链反应（PCR）及双向测序技术，对34例河南省PKU患者PAH基因的所有外显子及部分侧翼内含子进行检测。
共鉴定出23种不同的致病突变，占PAH等位基因的92.65%（63/68），包括12种错义突变、4种无义突变、4种剪接位点突变和3种缺失突变。其中，A156P和P69_S70delinsP（delCTT）为新突变；根据PAH数据库（www.pahdb.mcgill.ca），IVS2+5G→C、G332E、IVS10-14C→G和L367→Wfs首次在中国人群中报道。在全部13个外显子中，外显子7的突变类型最多，外显子11和外显子5次之。最常见的突变包括R243Q（17.65%，12/68）、V399V（11.76%，8/68）、IVS4-1G→A（8.82%，6/68）、R400T（7.35%，5/68）、Y166X（5.88%，4/68）和G247R（5.88%，4/68）。此外，本研究还发现了9种其他基因变异。
河南省PKU患者PAH基因突变谱及频率与中国其他地区略有不同。
