| 李景仪 吴元明 胡德品 贺春霞 吴礼安.一例急性间歇性血卟啉病病例报道及文献回顾[J].,2016,16(17):3286-3290 |
| 一例急性间歇性血卟啉病病例报道及文献回顾 |
| A Case of Genomic Analysis and Review of Acute Intermittent Porphyria |
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| DOI： |
| 中文关键词: 急性间歇性血卟啉病 临床诊断 基因突变分析 |
| 英文关键词: Acute intermittent porphyria Clinical diagnosis Genetic mutation analysis |
| 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：对患有急性间歇性血卟啉病先证者及其两位直系亲属进行基因突变的分析。方法：采用PCR 和一代测序技术分别对
患者的HMBS 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HMBS基因11 号外显子的旁翼区发生杂合突变c.
651+2A>G，为剪切突变；从先证者母亲以及女儿的HMBS 基因上检测出同样的突变位点。结论：根据先证者的家族史、临床表现
及相关代谢检查结果诊断为血卟啉病；基因检测结果提示先证者为急性间歇性血卟啉病；先证者的母亲和女儿存在同样的突变
位点，提示先证者母亲及其女儿均患有急性间歇性血卟啉病。 |
| 英文摘要: |
| Objective:To analyze the gene mutation of a proband with acute intermittent porphyria and herdirect relatives including
her mother and daughter.Methods:PCR and Sanger sequencing were used to analyze the exonsand respective flanking sequences of
the HMBS gene.Results:A c.651+2A>G heterozygous mutation was found from the eleventh exon and its flanking sequence of HMBS
gene of the proband, which was a splicing mutation. The same mutation wasfound in the HMBS gene of the mother and daughter of the
proband.Conclusion:According to the family medical history, clinical manifestation and related results of metabolic tests, the proband
was diagnosed as porphyria; The further genetic testing results indicated both the proband and hermother and daugther suffered from
acute intermittent porphyria. |
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