[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].
OBJECTIVE
To study the characteristics of phenylalanine hydroxylase (PAH) gene mutations in patients with hyperphenylalaninemia from Jiangsu province by DNA sequencing, and to analyze the spectrum of PAH gene mutations.


METHODS
A total of 70 patients and their parents were included in this study. All of the 13 exons and flanking introns of the PAH gene were analyzed with DNA sequencing.


RESULTS
Forty five types of mutations were identified, which included 4 novel mutations (L37P, H107R, Q267L, S391T). A total of 125 mutations were identified in 140 alleles (89.3%). All mutations were detected in exons 2-3, 5-7, 9-12 and introns 2, 4, 7 and 8. Most mutations were found in exons 6, 7 and 12. EX6-96A > G, R243Q and R241C were the most common mutations.


CONCLUSIONS
The mutational spectrum of Jiangsu province seems to be different from other regions. The spectrum can offer reliable information for genetic diagnosis of patients with hyperphenylalaninemia.
Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210004, P. R. China. Email: jiangzhang784@163.com.
Jing-jing
JJ
Zhang
Yun
Y
Sun
Yi-jun
YJ
Sun
Mei-lian
ML
Huang
Jin
J
Zhang
Xiao-wei
XW
Liang
Tao
T
Jiang
Zheng-feng
ZF
Xu
D000328:Adult; D001483:Base Sequence; D002681:China; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology* / Q000235:genetics*; D055815:Young Adult
D010651:Phenylalanine Hydroxylase