摘要
目的了解陕西地区苯丙酮尿症（ phenylketonuria, PKU）患儿苯丙氨酸羟化酶（phenylalanine hydroxylase, PAH）基因突变特征，为该地区苯丙酮尿症的基因诊断和产前诊断提供参考。方法选择陕西地区55例苯丙氨酸浓度大于2．0mg／dL的PKU患儿，应用聚合酶链反应结合测序技术对其PAH基因13个外显子及其侧翼序列进行分析。结果55例患儿110个PAH等位基因中共检出98个突变等位基因，突变检出率为89．10％（98／110）；第7外显子为高频突变区域，包含9种突变，相对突变频率为33．67％（33／98），其次为第12外显子（14．29％）和第3外显子（12．24％）；共检出PAH基因突变38种，p．R243Q为突变热点，占总突变的24．49％（24／98），3种突变p．A47E、p．165S和p．A259T国内未见报道，p．C334X经PAHdb和HGMD数据库比对查新，为未报道过的PAH基因新突变。结论初步得到了陕西地区的PAH基因突变图谱，发现1例新突变，为本地区PKU基因诊断、产前诊断积累有价值的资料。
Objective To investigate the feature of phenylalanine hydroxylase （PAH） gene mutations and provide guidance for genetic and prenatal diagnosis of patients with phenylketonuria from Shaanxi. Methods For 55 patients whose blood Phe concentration was over 2.0 mg/dL, potential mutations in 13 exons and flanking sequences of the PAH gene were detected by PCR and DNA sequencing. Results A total of 98 mutations were detected in 110 PAH alleles, with the detection rate being 89. 10%. Nine mutations have been identified in exon 7, which accounted for 33.67% of all. Exon 12 （14.29%） and exon 3 （12.24%） have followed. Thirty eight mutations, locating in exon2-exonl2 and the flanking sequence, were detected in the 55 PKU patients, p. R243Q （24.49%） was the commonest mutation, whilst p. A47E, p. I65S and p. A259T were first discovered in China. After querying international databases including PAHdb and HGMD, the p. C334X was verified as the novel PAH gene mutation. Conclusion The mutation spectrum of the PAH gene in Shaanxi has been identified. And a novel mutation has been identified. This may facilitate the diagnosis of PKU in the future.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2014年第1期74-77,共4页
Chinese Journal of Medical Genetics
作者简介
通信作者：强荣，qiangrongshx@126．com
