Characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province.
10.3760/cma.j.issn.1003-9406.2018.06.003
- Author:
Chen CHEN
1
;
Zhenhua ZHAO
;
Yilin REN
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450002, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
China;
Exons;
Humans;
Mutation, Missense;
Phenylalanine Hydroxylase;
genetics;
Phenylketonurias;
genetics;
Point Mutation;
Sequence Deletion
- From:
Chinese Journal of Medical Genetics
2018;35(6):791-795
- CountryChina
- Language:Chinese
-
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.
