2023年6月10日 · Using a CRISPR prime-edited hepatocyte cell line and a humanized PKU mouse model, we demonstrate efficient in vitro and in vivo correction of the P281L variant with adenine base editing.

2019年8月5日 · The established method of combing single-tube multiplex PCR with molecular hybridization technology can accurately and rapidly detect PAH gene mutations in Chinese and is suitable for screening of large PKU populations with clinical samples.

苯丙酮尿症 (phenylketonuria，PKU) (OMIM #261600)为常染色体隐性遗传氨基酸代谢病，是由苯丙氨酸羟化酶 (phenylalanine hydroxylase，PAH) (NP_000268.1)缺陷所致，男女患病率均等 [1]。 PKU的常见表现包括智力发育迟缓，毛发和皮肤颜色浅淡、湿疹、癫痫、极度亢奋，汗液和尿有鼠尿味。 早期诊断并给予低苯丙氨酸 (phenylalanine，Phe)饮食治疗，受累者可获得正常的智力发育。

苯丙酮尿症（Phenylketonuria，PKU）是最常见的氨基酸代谢病之一，为常染色体隐性遗传。 是由于苯丙氨酸（Phe）代谢途径中苯丙氨酸羟化酶或其他辅酶缺陷，使得苯丙氨酸不能转变成为酪氨酸，导致苯丙氨酸及其酮酸蓄…

Genetic diagnostics of phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficient hyperphenylalaninemia (BH4DH) rely on methods that scan for known mutations or on laborious molecular tools that use Sanger sequencing. We have implemented a novel ...

The polymorphic information content (PIC) and the degree of heterozygosity of several polymorphic systems within the phenylalanine hydroxylase (PAH) gene were determined in 85 European Caucasian and 19 Chinese phenylketonuria (PKU) kindreds.

1988年3月5日 · Oligonucleotides specific for these mutations can serve as molecular probes to detect PKU carriers in the general population.6,7 The polymerase chain reaction (PCR) technique9 will expedite screening for mutant alleles at the PAH locus.

2013年9月5日 · 经典型的苯丙酮尿 (Phenyketon uria简PKU)是由苯丙氨酸羟化酶 (PAH)的遗传性 缺陷引起的一种先天性代谢病，其发病早在我国以为1/10000左右，杂合子频率为 1/50. PKU患儿由于苯丙氨酸羟化酶的缺乏或不是使苯丙氨酸在休丙大量堆识，并经旁 路代谢途径产生一系列的毒性代谢产物而该小儿产生一系列的明显中毒症状.患儿在 刚出生时，由于无苯丙氨酸的摄入因此无临表现.随着患儿的退食而连续出现智力进 行性下降，皮肤色素浅，肌张力高，惊厥发生，汗和 …

We describe a simple and technically feasible method for mutation screening of the phenylalanine hydroxylase (PAH) gene and its application to Japanese and Chinese patients with hyperphenylalaninemia.

Using minisequencing method, we have optimized the detection of the 24 probes (core panel plus control panel) of our test in four multiplex polymerase chain reactions (PCR) followed by four single-nucleotide extension reactions and four electropherograms. The method showed 100% sensitivity and 100% specificity.