一例急性间歇性血卟啉病病例报道及文献回顾

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+2AG,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。

A Case of Genomic Analysis and Review of Acute Intermittent Porphyria

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.