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
en Zh
| WPRIM
| ID: wpr-775836
Biblioteca responsable:
WPRO
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.
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Índice:
WPRIM
Asunto principal:
Fenilalanina Hidroxilasa
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Fenilcetonurias
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China
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Exones
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Eliminación de Secuencia
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Mutación Puntual
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Mutación Missense
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Genética
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2018
Tipo del documento:
Article