Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1057-1061, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776747
ABSTRACT
OBJECTIVE@#To delineate the variants spectrum of phenytalanine hydroxylase (PAH) gene among 78 unrelated patients with phenylketonuria (PKU) from Jiangxi province.@*METHODS@#The 13 exons and flanking intronic regions of the PAH gene were subjected to PCR amplification and sequencing.@*RESULTS@#A total of 143 variants were detected among the 156 alleles, which included 54 types of variants, which yielded a detection rate of 91.7%. Common variants have included R243Q (26/143, 18.2%), R408Q (10/143, 7.0%), EX6-96A to G(8/143, 5.6%), IVS4-1G to A(7/143, 4.9%), R241C(7/143, 4.9%) and V399V(7/143, 4.9%). In addition, 6 novel variants were detected, which included IVS4-3T to G, Q172H, C284Y, V291L, V329del, and L430R. The variants consisted of missense, splicing, nonsense and deletion variants, which have mainly located in exons 7 (45, 31.5%), 12(17, 11.9%), 11(16, 11.2%) and 6(14, 9.8%).@*CONCLUSION@#Variants of the PAH gene identified in Jiangxi province mainly involve exons 7, 12, 11 and 6, with the most common variants being R243Q and R408Q. Six novel variants were identified.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenilalanina Hidroxilase
/
Fenilcetonúrias
/
Íntrons
/
China
/
Éxons
/
Genética
/
Mutação
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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