| 李景仪 吴元明 杨颖 孙茂 吴礼安 贺春霞.一例酪氨酸血症患儿的临床特征及相关致病基因分析[J].,2016,16(5):816-819 |
| 一例酪氨酸血症患儿的临床特征及相关致病基因分析 |
| The Clinical Manifestation and Related Pathogenic Gene Analysis of OneNewborn with Tyrosinemia |
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| DOI： |
| 中文关键词: 酪氨酸血症 Hawkinsinuria症 代谢分析 序列分析 |
| 英文关键词: Tyrosinemia Hawkinsinuria Metabolismanalysis Sequenceanalysis |
| 基金项目:国家自然科学基金面上项目(81170929)；陕西省自然科学基金面上项目(2014JM4114)；中国博士后基金项目（2014M562545） |
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| 中文摘要: |
| 目的：对一例酪氨酸血症患儿进行临床表现和基因突变的分析。方法：采用血氨基酸液相色谱-串联质谱法和尿液有机酸气
相色谱-质谱分析患儿血尿代谢情况，采用PCR 和一代测序技术分别对患儿的FAH 基因和HPD基因的外显子及其旁翼区进行
序列分析。结果：检测出先证者血液中酪氨酸水平为404.6 uM、甲硫氨酸（Met）水平为126.4 uM、苯丙氨酸（Phe）水平为514.8
uM，三者浓度均明显高于正常水平；尿液中检测出4- 羟基苯乙酸（+）、4- 羟基苯乳酸（+）和4-羟基苯丙酮酸（++）；基因序列分析
FAH 基因未见异常，HPD 基因上发现突变位点c.G97A (p.A33T)。结论：根据患儿的临床表现及血尿代谢检测结果，提示患儿为酪
氨酸血症患者，进一步的基因检测结果提示患儿可能为罕见的Hawkinsinuria 症。 |
| 英文摘要: |
| Objective:Investigating the clinical manifestation and gene mutation for a newborn with tyrosinemia.Methods:Liquid
chromatography-tandem mass spectrometry and gas chromatography - mass spectrometry were introduced to analyze the patient's blood
amino acid and urine organic acid component. PCR and Sanger sequencingwere used to analyze the exonsand respective flanking sequences
of the genes including FAHand HPD, respectively.Results:The levels of tyrosine(Tyr), methionine(Met)and phenylalanine(Phe)
of patient's blood were 404.6 uM, 126.4 uM and 126.4 uM, respectively, which alldistinctly exceeded the normal level. The level of
4-hydroxyphenylacetic acid, 4-hydroxy benzene lactic acid and 4-hydroxy phenyl pyruvic acid were detectedin patient's urine as well.
The positive results were (+), (+) and (++), respectively. The FAH gene sequence analysis was demonstrated normal. However, the HPD
gene was found ac.G97A (p.A33T) mutation.Conclusion: |
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