In this study, for the first time, we identified PKU patients with unknown genotypes via single-gene full-length sequencing.
The detection rate of PKU genotype increased from 94.6 to 99.4%, an increase of approximately 5%. The variants c.1199 + 502A > T and 1065 + 241C > A were found at a high frequency in Chinese PKU patients.
Our study suggest that single-gene full-length sequencing is a rapid, efficient and cost-effective tool to improve the genotype detection rate of PKU patients. Moreover, we provides additional case data to support pathogenicity of deep intronic variants in PAH.
在这项研究中,第一次,我们通过单基因全长测序鉴定了基因型未知的PKU患者.
PKU基因型检出率从94.6%提高到99.4%,增加约5%。在中国PKU患者中发现了高频率的变体c.1199502A>T和1065241C>A。
我们的研究表明,单基因全长测序是一种快速,提高PKU患者基因型检出率的方法。此外,我们提供了额外的病例数据来支持深内含子变异在PAH中的致病性.