Chuan Zhang, Pei Zhang, Bing-Bo Zhou, Xing Wang, Lei Zheng, Xiu-Jing Li, Jin-Xian Guo, Pi-Liang Chen, Ling Hui, Zhen-Qiang DA, You-Sheng Yan
{"title":"[中国甘肃1 159例苯丙酮尿的基因分析及干预策略]。","authors":"Chuan Zhang, Pei Zhang, Bing-Bo Zhou, Xing Wang, Lei Zheng, Xiu-Jing Li, Jin-Xian Guo, Pi-Liang Chen, Ling Hui, Zhen-Qiang DA, You-Sheng Yan","doi":"10.7499/j.issn.1008-8830.2502040","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the <i>PAH</i> gene.</p><p><strong>Results: </strong>For the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295).</p><p><strong>Conclusions: </strong>Deep intronic variant analysis of the <i>PAH</i> gene can improve the genetic diagnostic rate of PKU. The development of targeted detection kits for <i>PAH</i> hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 7","pages":"808-814"},"PeriodicalIF":0.0000,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291574/pdf/","citationCount":"0","resultStr":"{\"title\":\"[Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].\",\"authors\":\"Chuan Zhang, Pei Zhang, Bing-Bo Zhou, Xing Wang, Lei Zheng, Xiu-Jing Li, Jin-Xian Guo, Pi-Liang Chen, Ling Hui, Zhen-Qiang DA, You-Sheng Yan\",\"doi\":\"10.7499/j.issn.1008-8830.2502040\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the <i>PAH</i> gene.</p><p><strong>Results: </strong>For the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295).</p><p><strong>Conclusions: </strong>Deep intronic variant analysis of the <i>PAH</i> gene can improve the genetic diagnostic rate of PKU. The development of targeted detection kits for <i>PAH</i> hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.</p>\",\"PeriodicalId\":39792,\"journal\":{\"name\":\"中国当代儿科杂志\",\"volume\":\"27 7\",\"pages\":\"808-814\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-07-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291574/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中国当代儿科杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.7499/j.issn.1008-8830.2502040\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国当代儿科杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7499/j.issn.1008-8830.2502040","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
[Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].
Objectives: To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies.
Methods: A retrospective analysis was conducted on 1 159 PKU families who attended Gansu Provincial Maternity and Child Care Hospital from January 2012 to December 2024. Sanger sequencing, multiplex ligation-dependent probe amplification, whole exome sequencing, and deep intronic variant analysis were used to analyze the PAH gene.
Results: For the 1 159 children with PKU, 2 295 variants were identified in 2 318 alleles, resulting in a detection rate of 99.01%. The detection rates were 100% (914/914) in 457 classic PKU families, 99.45% (907/912) in 456 mild PKU families, and 96.34% (474/492) in 246 mild hyperphenylalaninemia families. The 2 295 variants detected comprised 208 distinct mutation types, among which c.728G>A (14.95%, 343/2 295) had the highest frequency, followed by c.611A>G (4.88%, 112/2 295) and c.721C>T (4.79%, 110/2 295). The cumulative frequency of the top 23 hotspot variants reached 70.28% (1 613/2 295), and most variant alleles were detected in exon 7 (29.19%, 670/2 295).
Conclusions: Deep intronic variant analysis of the PAH gene can improve the genetic diagnostic rate of PKU. The development of targeted detection kits for PAH hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.
中国当代儿科杂志Medicine-Pediatrics, Perinatology and Child Health
CiteScore
1.50
自引率
0.00%
发文量
5006
期刊介绍：
The Chinese Journal of Contemporary Pediatrics (CJCP) is a peer-reviewed open access periodical in the field of pediatrics that is sponsored by the Central South University/Xiangya Hospital of Central South University and under the auspices of the Ministry of Education of China. It is cited as a source in the scientific and technological papers of Chinese journals, the Chinese Science Citation Database (CSCD), and is one of the core Chinese periodicals in the Peking University Library. CJCP has been indexed by MEDLINE/PubMed/PMC of the American National Library, American Chemical Abstracts (CA), Holland Medical Abstracts (EM), Western Pacific Region Index Medicus (WPRIM), Scopus and EBSCO. It is a monthly periodical published on the 15th of every month, and is distributed both at home and overseas. The Chinese series publication number is CN 43-1301/R；ISSN 1008-8830. The tenet of CJCP is to “reflect the latest advances and be open to the world”. The periodical reports the most recent advances in the contemporary pediatric field. The majority of the readership is pediatric doctors and researchers.
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