波兰苯丙酮尿症常见致病突变的频率。
Frequencies of the most common mutations responsible for phenylketonuria in Poland.
作者信息
Zekanowski C, Nowacka M, Zgulska M, Horst J, Cabalska B, Mazurczak T
机构信息
Department of Genetics, National Research Institute of Mother and Child, Warszawa, Poland.
出版信息
Mol Cell Probes. 1994 Aug;8(4):323-4. doi: 10.1006/mcpr.1994.1044.
We screened 91 Polish phenylketonuric (PKU) children for the presence of 18 common mutations in the phenylalanine hydroxylase (PAH) gene, and 75.7% of PAH alleles were identified. The R408W mutation accounted for 54.9% of PAH mutant alleles. In the other 20.8%, eight mutations were detected: R158Q (6.6%), IVS10 (4.9%), IVS12 (2.7%), R261Q (2.2%), G272ter (1.65%), Y414C (1.1%), R252W (1.1%) and P281L (0.54%). Correlations between genotype and clinical phenotype were described.
我们对91名波兰苯丙酮尿症（PKU）儿童进行筛查，以检测苯丙氨酸羟化酶（PAH）基因中18种常见突变的存在情况，共鉴定出75.7%的PAH等位基因。R408W突变占PAH突变等位基因的54.9%。在另外20.8%中，检测到8种突变：R158Q（6.6%）、IVS10（4.9%）、IVS12（2.7%）、R261Q（2.2%）、G272ter（1.65%）、Y414C（1.1%）、R252W（1.1%）和P281L（0.54%）。文中描述了基因型与临床表型之间的相关性。
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