PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population
| Autor: | Zhen-Wen Wang, Shi-Wen Jiang, Bao-Cheng Zhou |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male China Phenylalanine hydroxylase Phenylalanine Population medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Genotype-phenotype distinction Mutation Rate Phenylketonurias Genotype medicine Humans Allele education Genetic Association Studies Genetics Mutation education.field_of_study lcsh:R5-920 biology Infant Phenylalanine Hydroxylase General Medicine PAH Phenotype 030104 developmental biology PKU Child Preschool biology.protein Female lcsh:Medicine (General) 030217 neurology & neurosurgery |
| Zdroj: | Kaohsiung Journal of Medical Sciences, Vol 34, Iss 2, Pp 89-94 (2018) |
| ISSN: | 2410-8650 |
| Popis: | Phenylketonuria (PKU) is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH). The incidence of various PAH mutations have race and ethnicity differences. We report a spectrum of PAH mutations complied from 35 PKU children who are all Chinese Han population from north Jiangsu in this study. All 13 exons and their flanking intron sequences of PAH were determined by Ion Torrent PGM™ sequencing. The relationship of genotype and phenotype was analyzed based on the sum of the arbitrary value (AV) values of the two alleles. We identified 61 mutations, with a frequency of 87.14%, among 70 alleles of 35 patients. The most prevalent mutations were R243Q (26.23%), R241C (9.84%) and V399V (8.20%). Furthermore, the consistency between prediction of the biochemical phenotype and the observed phenotype was 81.25%, with the highest consistency observed in classic PKU (87.50%). A significant correlation was found between pretreatment levels of phenylalanine and AV sum (r = −0.87, P |
| Databáze: | OpenAIRE |
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