[Genetic profiling and intervention strategies for phenylketonuria in Gansu, China: an analysis of 1 159 cases].
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OBJECTIVES: To investigate the molecular epidemiology of children with phenylketonuria (PKU) in Gansu, China, providing foundational data for intervention strategies. METHODS: 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: hotspot variants may enable precision screening programs and enhance preventive strategies for PKU.
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Où se fait cette recherche
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Gansu Provincial Maternal and Child Health Hospital pays non établi dans la noticeÉtablissement de santé
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Gansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases pays non établi dans la noticeStructure de recherche
Gansu Provincial Maternal and Child Health Hospital et Gansu Provincial Maternity and Child Care Hospital/Gansu Provincial Central Hospital/Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases.
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