[Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang].
OBJECTIVE
To study the characteristics of the PAH gene mutation in patients with phenylketonuria (PKU) in Xinjiang area.


METHODS
The mutations in exons 3, 5, 6, 7, 11 and 12 and the flanking intronic sequence of the PAH gene were detected by PCR/SSCP analysis and direct DNA sequencing in 46 PKU patients.


RESULTS
Twenty different mutations were found in 68/92 alleles (73.9%). The prevalent mutations of R243Q, EX6 96A>G, R111X, Y356X and V399V were similar to that of Northern China populations. The mutations F161S, L255S, P281L, and R413P were significantly different from that in other Chinese populations. It was the second time that E280G and A434D mutations were reported in the world, that L255S, P281L, R261Q, and I65T mutations were found in China. Thirteen different mutations were first found in Chinese Uygur, which showed a distinct ethnic characteristics.


CONCLUSIONS
The study showed not only a distinct and conservative, but also a crossed and syncretic genetic characteristics in Xinjiang Uygur population. The results suggest that Xinjiang could be an ideal genetic resource repertoire for studying diversity of gene mutations, heterogeneity of PAH gene, human origins and migration.
Yu
Wu-zhong
WZ
Institute of Clinical Medicine, Department of Neurosurgery, Urumqi General Hospital, Lanzhou Military Region, PLA, Urumqi, Xinjiang, 830000 PR China. wuzhong.yu@yahoo.com.cn
Qiu
Dong-hui
DH
Song
Fang
F
Liu
Li
L
Liu
Shao-ming
SM
He
Xin-jian
XJ
Jin
Yu-wei
YW
Zhang
Yan-ling
YL
Zou
Hong-yun
HY
He
Jiang
J
Lei
Quan
Q
Liu
Xing-wen
XW
D000293:Adolescent; D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000201:enzymology / Q000235:genetics*
D010651:Phenylalanine Hydroxylase