酪氨酸血症Ⅰ型的临床及基因突变分析
窦丽敏;方玲娟;王晓红;陆炜;陈瑞;李丽婷;赵静;王建设
【期刊名称】《中华儿科杂志》 【年(卷),期】2013(051)004
【摘要】Objective To investigate the clinical features and mutations of the FAH gene.Method Clinical records of two cases were collected,and diagnosis was made according to the diagnostic criteria of the International Organization for Rare Disorders (NORD).Genomic DNA was extracted from peripheral blood leukocytes with QIAamp(R) DNA Mini Kit.The DNA extracts were subjected to direct sequencing for 14exons together with adjacent fragments of FAH gene using ABI Prism 3730 Genetic Analyzer (Applied Biosystems,Foster City,CA) after PCR based on genomic DNA.The mutation source was verified by analyzing parents' exons corresponding to patients' mutation exons.The homology between human FAH enzyme and that of other species was surveyed
using
software
Clustal
X
(European
Bioinformatics (Polymorphism
Institute,Hinxton,Saffron Walde,UK).Polyphen
Phenotyping),available online,were used to predict possible impact of an amino acid substitution on structure and function of FAH enzyme.Polyphen calculates position-specific independent counts (PISC) scores for two amino acid variants in polymorphic position.A PISC scores that differ by ＞ 2 were regarded as indicating the probability of
酪氨酸血症Ⅰ型的临床及基因突变分析
