Author:
Wang Lin,Wang Xiaobin,He Bin,Cai Na,Li Wei,Lou Chao,Xin Shuwen,Wu Qiuhua,Yu Wenwen,Qiang Rong
Abstract
AbstractBackground:This study aims to investigate the spectrum and frequency of phenylalanine hydroxylase (Methods:Polymerase chain reaction (PCR) and DNA sequencing analyses were performed to examine theResults:Pedigree analysis suggested that the [c.158G>A([p.R53H)][IVS7+2T>A] mutation was located at the same chromatid. However, there was a controversial viewpoint that thought the c.158G>A(p.R53H) variant was a polymorphism in the Chinese. We also found one novel indel mutation and identified the c.59_60delAGinsCC mutation of theConclusions:gene analysis is a crucial method for PKU diagnosis and prenatal genetic prognosis, even though many uncommon mutations would affect the analysis and diagnosis of genetic abnormalities.
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
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