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《Hereditas(Beijing)》 2005-01
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Mutations in Exon 7 of the Phenylalanine Hydroxylase(PAH)Gene in Chinese Patients with Phenylketonuria

SONG Fang~1,JIN Yu-Wei~1,WANG Hong~1,ZHANG Yu-Min~2,YANG Yan-Ling~3,ZHANG Ting~1(1.Capital Institute of Pediatrics, Beijing 100020, China; 2.Beijing Newborn Disease Screening Center,Beijing 100006, China; 3.The First Hospital, Peking University, Beijing 100034, China)  
To study mutation in exon 7 of the gene for the phenylalanine hydroxylase(PAH), the mutations in exon 7 and flanking sequence of PAH gene were detected by SSCP analysis and DNA sequencing, in 147 unrelated Chinese children with phynelketonuria and their parents. Thirteen different mutations, including 11 missense, 1 deletion and 1 splice mutation, were revealed in 90/294 mutant alleles (30.61%). The prevalent mutations were R243Q (22.8%) and Ivs7nt2t-a (2.38%). Seven novel mutations were identified:G239D, R241fsdelG, G247S, E280G, L255S, R261Q, P281L. These new mutations have not been described in Chinese PKU population and the first four mutants have not been reported and thus been submitted to www.pahdb,mcgill.ca. The missense was the most common type. The deletion and frameshift mutations were detected for the first time in Chinese PKU population. This study showed the mutation characteristics and their distribution in exon 7 of PAH gene and proved that the exon 7 was the hot region of PAH gene mutation in Chinese PKU population.
【Fund】: 国家重点基础性研究973项目基金(2001CB510306);; 北京市卫生局妇幼基金资助~~
【CateGory Index】: R725.8
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