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Characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 791-795, 2018.
Article in Chinese | WPRIM | ID: wpr-775836
ABSTRACT
OBJECTIVE@#To explore the characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province.@*METHODS@#The 13 exons of the PAH gene were subjected to PCR amplification and direct sequencing. Large fragment deletion and duplication of the PAH gene were detected with a multiple ligation-dependent probe amplification (MLPA) assay.@*RESULTS@#In total 195 point variants and 3 large fragment deletions were detected among the 226 alleles, with the detection rates being 86.28% and 1.33%, respectively. Variants of p.Arg243Gln (18.14%), p.Arg111X (6.19%), p.Arg53His (5.31%), EX6-96A>G (5.31%), p.Tyr356X (4.87%) and p.Val399Val (4.42%) were relatively common. Most of the variants were located in exons 7, 11, 3 and 6. Missense variations were most common. Four novel variations were detected, which included c.1016C>A (p.Ser339Tyr), c.1000T>C (p.Cys334Arg), c.1110G>T (p.Glu370Asp), and IVS6+1G>T.@*CONCLUSION@#The PAH gene variations in Henan Province have featured extensive allelic heterogeneity and variety.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenylalanine Hydroxylase / Phenylketonurias / China / Exons / Sequence Deletion / Point Mutation / Mutation, Missense / Genetics Limits: Humans Country/Region as subject: Asia Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenylalanine Hydroxylase / Phenylketonurias / China / Exons / Sequence Deletion / Point Mutation / Mutation, Missense / Genetics Limits: Humans Country/Region as subject: Asia Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2018 Type: Article