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首页> 外文期刊>Iranian journal of psychiatry. >Report a Novel Mutation in Human Prostacyclin Receptor Gene in patient affected with Migraine
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Report a Novel Mutation in Human Prostacyclin Receptor Gene in patient affected with Migraine

机译：报告偏头痛患者中人类前列环素受体基因的新型突变

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Objective: The human prostacyclin receptor gene (PTGIR) encodes the human prostacyclin (PGI2) receptor. PTGIR is a part of vasodilator system during the migraine attacks and probably has an important role in the mechanism of this disease. Materials and Methods: We used direct PCR and sequencing to determine the any variants in PTGIR gene. A blood sample was collected from the patients and genomic DNA was extracted. Polymerase chain reaction was carried out on extracted DNA. The PCR products were then sequenced using a cycle sequencing kit, on an automated DNA sequencing machine. Results: In reviewing of familial and clinopathological of these two patients, both patients have migraines with visual aura and their mothers also are suffering from migraines. Their parents had been married strangers. Direct sequencing analysis of exon 2 of the PTGIR gene showing the presence of two mutations in two patients. These mutations were heterozygote that made the following changes; g.1626T>A, c.754T>A, cDNA.867T>A, and p.S252T for the first mutation and c.753C>T, cDNA866C>T, g.1625C>T, p.C251C for the second mutation. The first mutation alters the amino acid and is a novel mutation. The second change is a conservative mutation that have already been reported. Conclusion: The prediction results predicted the variant would negatively affect the protein’s function and seems to be disease causing. Although functional analysis is required to confirm the association between the variant and the disease.
机译：目的：人前列环素受体基因（PTGIR）编码人前列环素（PGI2）受体。 PTGIR是偏头痛发作期间血管扩张系统的一部分，可能在这种疾病的发病机制中起重要作用。材料和方法：我们使用直接PCR和测序来确定PTGIR基因的任何变异。从患者那里采集血液样本并提取基因组DNA。对提取的DNA进行聚合酶链反应。然后使用循环测序试剂盒在自动DNA测序仪上对PCR产物进行测序。结果：在对这两名患者的家族和临床病理检查中，两个患者都有偏头痛并伴有视觉先兆，其母亲也患有偏头痛。他们的父母是已婚的陌生人。 PTGIR基因外显子2的直接测序分析显示两名患者中存在两个突变。这些突变是杂合子，产生了以下变化：第一个突变为g.1626T> A，c.754T> A，cDNA.867T> A和p.S252T，第二个突变为c.753C> T，cDNA866C> T，g.1625C> T，p.C251C 。第一个突变改变了氨基酸，是一个新突变。第二个变化是已经报道的保守突变。结论：预测结果预测该变体会对蛋白质的功能产生负面影响，并且似乎是引起疾病的原因。尽管需要进行功能分析以确认变异与疾病之间的关联。

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