van Lingen B L, Reindollar R H, Davis A J, Gray M R
Department of Anatomy and Cellular Biology, Sackler School of Graduate Biomedical Sciences, Tufts University School of Medicine, Boston, Massachusetts, USA.
Am J Obstet Gynecol. 1998 Sep;179(3 Pt 1):597-603. doi: 10.1016/s0002-9378(98)70051-1.
Several lines of evidence suggest that expression of the WT1 transcription factor gene is necessary for normal development of the renal and male reproductive systems. Female patients with severe reproductive tract developmental defects were examined for WT1 gene mutations.
The WT1 gene was analyzed in 25 patients with congenital absence of the uterus and vagina for mutations. Genomic deoxyribonucleic acid prepared from blood leukocytes was subjected to Southern blot analysis and denaturing gradient gel electrophoresis.
Common WT1 gene deoxyribonucleic acid sequence polymorphisms were found in both normal control subjects and patients with congenital absence of the uterus and vagina. No deoxyribonucleic sequence differences or mutations likely to cause congenital absence of the uterus and vagina were detected in the patients.
The absence of WT1 gene mutations in patients with congenital absence of the uterus and vagina supports the hypothesis that WT1 expression is required only for later urogenital development, after the mesonephric and paramesonephric ducts have already formed.
多项证据表明，WT1转录因子基因的表达对于肾脏和男性生殖系统的正常发育是必需的。对患有严重生殖道发育缺陷的女性患者进行WT1基因突变检测。
对25例先天性无子宫和阴道患者的WT1基因进行突变分析。从血液白细胞中提取的基因组脱氧核糖核酸进行Southern印迹分析和变性梯度凝胶电泳。
在正常对照受试者和先天性无子宫和阴道患者中均发现了常见的WT1基因脱氧核糖核酸序列多态性。在患者中未检测到可能导致先天性无子宫和阴道的脱氧核糖核酸序列差异或突变。
先天性无子宫和阴道患者中未发现WT1基因突变，这支持了以下假设：WT1的表达仅在中肾管和副中肾管已经形成后的泌尿生殖系统后期发育中才是必需的。
