Christa L, Zarski J P, Nalpas B, Augereau C, Bréchot C
Inserm U75, C.H.U. Necker, Paris, France.
Hum Genet. 1992 Mar;88(5):537-40. doi: 10.1007/BF00219340.
We investigated the MspI restriction site of the human collagen type I A2 (COL1A2) gene in alcoholic subjects with and without liver disease, using the nested polymerase chain reaction to analyse trace cellular DNA in plasma samples. This procedure is rapid, it requires only 200 microliters plasma, and the results correlate perfectly with those of Southern blotting. Alcoholic subjects with acute alcoholic hepatitis had a significantly lower frequency of the minor allele than healthy controls or alcoholics with minimal liver abnormalities, i.e. steatosis. Our results reinforce the hypothesis of a genetic predisposition of certain alcoholics to liver damage.
我们使用巢式聚合酶链反应分析血浆样本中的微量细胞DNA,研究了患有和未患有肝病的酒精性受试者中人类I型胶原蛋白A2(COL1A2)基因的MspI限制性酶切位点。该方法快速,仅需200微升血浆,且结果与Southern印迹法的结果完全相关。患有急性酒精性肝炎的酒精性受试者中,次要等位基因的频率显著低于健康对照或肝脏仅有轻微异常(即脂肪变性)的酗酒者。我们的结果强化了某些酗酒者对肝损伤存在遗传易感性的假说。