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Copyright of Shandong Medical Journal is the property of Shandong Medical Health Newspapers and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Shandong Medical Journal is the property of Shandong Medical Health Newspapers and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

目的观察安徽省高苯丙氨酸血症（HPA)患儿苯丙氨酸羟化酶(PAH)基因变异情况，探讨PAH基因变 异类型与HPA临床表型的关系。方法采集72例安徽省HPA患儿及其父母外周血进行二代测序，测序范围包 括13个外显子和外显子上下游200个碱基对的内含子，对可疑变异位点进行一代测序验证，可疑大片段缺失重复 进行多重连接探针扩增验证。结果 72例HPA患儿共检出复合杂合及纯合变异64例，1个位点变异6例、3个以 上变异位点 2 例。常见变异类型依次为 R243Q(12.86%)、R53H(12. 14%)、Y204C(7.86%)、V399V(6.43%)、 R241C(4.29%)、IVS4-1G > A(4. 29%)、R111X(4. 29%)、R413P(3. 57%)、Y356X(2.86% )、A434D(2.14%)、 R158W(2.14%)、Y166X(2. 14%)。经典型 PKU 最常见 PAH 基因变异类型为 R243Q、Y204C、V399V、R111X、 1^84-10>人、11413、0257丫，共占61.4%;轻度？101最常见人11基因变异类型为124311241、丫204(、丫399丫、Y356X、R413P、R158W),共占 67.65% ;轻度 HPA 最常见 PAH 基因变异类型为 R53H、R243Q、D101N、R111X、V230I. 共占48. 98%。结论 安徽地区HPA患儿PAH基因热点变异类型为R53H、R243Q、R241C、Y204C、V399V、 RlllXJVS-lG>、Y356X、R4123P、R158W、。轻度HPA患儿PAH基因变异类型主要为R53H中，经典PKU和轻度 PKU患儿中未发现较集中的PAH基因变异类型。 [ABSTRACT FROM AUTHOR]