板层鱼鳞病患者指甲内皮蛋白与TGase1酶的表达及其TGM1基因序列分析

TGase 1 and involucrin expression in nail and TGM 1 gene sequencing of patients with lamellar ichthyosis

目的观察板层鱼鳞病(LI)患者指甲转谷氨酰胺酶1(TGase 1)与内皮蛋白的表达变化,分析其TGM1基因序列。方法分别自8例LI患者(LI组)和8例健康人(C组)的指甲中提取总蛋白进行SDS-PAGE电泳,分别采用免疫印迹及斑点印迹法检测内皮蛋白和TGase 1。对LI组不同家系两个家族的2例患者血液进行TGM1基因序列分析。结果LI组指甲总蛋白SDS-PSGE电泳呈5条主带,即38、48、54、63、69 kDa,而C组仅呈现前4条主带。LI组内皮蛋白主要定位于63、69 kDa主带,C组内皮蛋白仅定位于63 kDa主带。两组内皮蛋白及TGase1的灰度值(GSM)相比,P均<0.05。2例LI患者TGM1基因序列第8、12、13外显子皆有错义的点突变。结论LI患者的指甲内皮蛋白过度表达、TGase 1低表达,TGM1基因序列异常。

Objective To observe the TGase 1 and involucrin expression in nail of lamellar ichthyosis （LI） patients, and analysis the TGM sequencing. Methods The total protein was extracted from nails of 8 LI cases （ LI group） and 8 healthy volunteers（ C group） ,and performed by SDS-PAGE. The involucrin and TGase 1 were measured by Western blot and dot blot. TGM 1 gene sequencing was analyzed in blood samples from 2 LI cases. Results There were 5 major bands ： 38 kDa,48 kDa,54 kDa 63 kDa and 69 kDa in LI group; 4 former bands were demonstrated in C group. The involucrin blotting was mainly located at 63 kDa and 69 kDa bands in LI group, only located at 63 kDa major band in C group. The GSM of involucrin and TGase 1 in LI group compared with C group,P 〈 0.05. The missense point mutation was observed in the 8, 12,13 exon in TGM 1 gene sequence of 2 cases of LI. Conclusions The TGM 1 gene sequences is abnormal, the involucrin is overexvression, the TGase 1 is lowexpression in nailof patients with LI.