丝氨酸蛋白酶抑制剂H1（SERPINH1）基因5'侧翼区域的12个碱基对缺失影响启动子活性，并可预防非裔美国人的早产前胎膜早破。
A 12-bp deletion in the 5'-flanking region of the SERPINH1 gene affects promoter activity and protects against preterm premature rupture of membranes in African Americans.
作者信息
Wang Hongyan, Sammel Mary D, Tromp Gerard, Gotsch Francesca, Halder Indrani, Shriver Mark D, Romero Roberto, Strauss Jerome F
机构信息
State Key Laboratory of Genetic Engineering, Institute of Genetics, Fudan University School of Life Science, Shanghai, China.
出版信息
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。
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