Pérez B, Desviat L R, De Lucca M, Ugarte M
Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid, Spain.
Acta Paediatr Suppl. 1994 Dec;407:34-6. doi: 10.1111/j.1651-2227.1994.tb13444.x.
In order to characterize the molecular heterogeneity of phenylalanine hydroxylase deficiencies in the Spanish population, 37 PKU patients were initially screened for 16 known European mutations. For the remaining unidentified alleles, we used a combined strategy based on single strand conformation polymorphism analysis and DNA sequencing. Overall, a total of 15 different mutations were found in our sample, which account for 62% of the total mutant alleles. We also investigated the association between the mutations, haplotypes and variable number of tandem repeats described on the phenylalanine hydroxylase gene. In addition, we analyzed the geographical distribution in Spain of the two most prevalent mutations in our population: IVS10 and I65T.
为了描述西班牙人群中苯丙氨酸羟化酶缺乏症的分子异质性，最初对37名苯丙酮尿症患者进行了16种已知欧洲突变的筛查。对于其余未鉴定的等位基因，我们采用了基于单链构象多态性分析和DNA测序的联合策略。总体而言，在我们的样本中总共发现了15种不同的突变，占突变等位基因总数的62%。我们还研究了苯丙氨酸羟化酶基因上描述的突变、单倍型和串联重复可变数之间的关联。此外，我们分析了我们人群中两种最常见突变（IVS10和I65T）在西班牙的地理分布。
