Wang Hongyan, Sammel Mary D, Tromp Gerard, Gotsch Francesca, Halder Indrani, Shriver Mark D, Romero Roberto, Strauss Jerome F
State Key Laboratory of Genetic Engineering, Institute of Genetics, Fudan University School of Life Science, Shanghai, China.
Hum Mutat. 2008 Feb;29(2):332. doi: 10.1002/humu.9522.
We identified a novel 12-bp deletion NT_033927.7: g.5495364_5495375del in the 5'-flanking region of the SERPINH1 gene that increases promoter activity. The 12-bp deletion is in linkage disequilibrium with the minor "T" allele of the -656 C/T SNP (NT_033927.7(SERPINH1):g.5495402C>T) that reduces promoter activity in amnion fibroblast cells and is associated with a significantly increased risk of preterm birth as a result of premature rupture of membranes. In a case-control study, fetal carriage of the 12-bp deletion was found to protect against PPROM, apparently overcoming the influence of the SERPINH1 -656 "T" allele. These studies define a new haplotype in the SERPINH1 gene that modifies risk of an adverse obstetrical outcome.
我们在SERPINH1基因的5'侧翼区域鉴定出一个新的12碱基对缺失（NT_033927.7: g.5495364_5495375del），该缺失可增加启动子活性。该12碱基对缺失与-656 C/T单核苷酸多态性（SNP）（NT_033927.7(SERPINH1):g.5495402C>T）的次要“T”等位基因处于连锁不平衡状态，后者可降低羊膜成纤维细胞中的启动子活性，并因胎膜早破导致早产风险显著增加。在一项病例对照研究中，发现胎儿携带该12碱基对缺失可预防胎膜早破早产，显然克服了SERPINH1 -656 “T”等位基因的影响。这些研究确定了SERPINH1基因中的一种新单倍型，该单倍型可改变不良产科结局的风险。
