本文選題：板層狀魚(yú)鱗病　切入點(diǎn)：轉(zhuǎn)谷氨酰氨酶　出處：《廣東醫(yī)學(xué)》2017年23期 　論文類型：期刊論文

【摘要】：目的對(duì)一家系板層狀魚(yú)鱗病(LI)患者轉(zhuǎn)谷氨酰氨酶1(TGM1)基因突變檢測(cè)。方法采用聚合酶反應(yīng)擴(kuò)增TGM1基因所有的外顯子及其鄰近的剪切點(diǎn)并進(jìn)行直接測(cè)序。結(jié)果 1例LI患者的TGM1基因存在雜合突變,核苷酸序列第587位發(fā)生錯(cuò)義突變,堿基由C突變成T,TGM1基因編碼的蛋白第197位的脯氨酸轉(zhuǎn)換成亮氨酸突變(p.Pro197Leu)�；颊呒彝コ蓡T未發(fā)現(xiàn)TGM1基因突變。結(jié)論 TGM1基因突變可能是本例LI患者的致病基因。
[Abstract]:Objective to detect the mutation of transglutaminase 1 (TGM1) gene in a family with lamellar ichthyosis. Methods all exons of TGM1 gene and its adjacent shearing sites were amplified by polymerase reaction and sequenced directly. There was heterozygosity in TGM1 gene in Li patients. A missense mutation occurred in the 587 nucleotide sequence. The gene mutation of TGM1 gene was not found in the family members of the patients. Conclusion the mutation of TGM1 gene may be a pathogenic gene in Li patients.
【作者單位】： 廣州醫(yī)科大學(xué)附屬武警廣東省總隊(duì)醫(yī)院皮膚科;廣州軍區(qū)總醫(yī)院附屬157分院皮膚科;
【基金】：廣東省醫(yī)學(xué)科學(xué)技術(shù)研究基金項(xiàng)目(編號(hào):A2017423)
【分類號(hào)】：R440;R758.52
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本文編號(hào)：1627689