Chinese Journal of Medical Genetics 2009;26(1):26-30

doi:10.3760/cma.j.issn.1003-9406.2009.01.006

Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang.

Wu-zhong YU 1 ; Dong-hui QIU ; Fang SONG ; Li LIU ; Shao-ming LIU ; Xin-jian HE ; Yu-wei JIN ; Yan-ling ZHANG ; Hong-yun ZOU ; Jiang HE ; Quan LEI ; Xing-wen LIU

Affiliations

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Country

China

Language

Chinese

MeSH

Abstract

OBJECTIVETo study the characteristics of the PAH gene mutation in patients with phenylketonuria (PKU) in Xinjiang area.

METHODSThe 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.

RESULTSTwenty 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.

CONCLUSIONThe 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.