中文摘要：

目的：分析苗勒管发育异常患者不同表型对生育结局的影响,探讨这些患者HOXA13基因的第二号外显子编码区是否存在突变。方法：回顾分析348例本中心苗勒管发育异常患者的不同表型对生育结局的影响;应用聚合酶链反应（PCR）扩增目的片段后,自动化测序分析HOXA13基因的第二号外显子编码区,与NCBI提供的正常序列比较,分析HOXA13基因的第二个外显子是否存在突变。结果：（1）苗勒管发育异常患者中不同表型对是否妊娠的影响有统计学差异（χ2=32.656,P〈0.0001）;（2）苗勒管发育异常患者的不同表型对妊娠结局的影响有统计学差异（χ2=12.817,P=0.005）;（3）本研究中,所有患者第二号外显子均无突变发生。结论：（1）苗勒管发育异常患者的不同表型对生育结局可能有不同的影响;（2）苗勒管发育异常可能与HOXA13基因的第二个外显子编码区突变无明显关系。

英文摘要：

Objective：To investigate the relationship between fertility outcomes in Mullerian duct abnormalities（MDAs）and to detect mutation of the 2nd exon in HOXA13 gene of the patients with MDAs.Methods：Fertility outcomes of 348 patients with MDAs were analyzed retrospectively;the 2nd exon in HOXA13 gene of these patients were amplified by PCR and compared with normal sequencing in NCKI.Results：（1）The fertility and infertility rates of different phenotype of MDAs has statistically significant（χ2=32.656,P0.0001）.（2）Fertility outcomes of different phenotype of MDAs has statistically significant（χ2=12.817,P=0.005）.（3）No mutation was found in the sequencing of the 2nd exon in HOXA13 gene of the patients.Conclusions：（1）MDAs is an important reason in abnormal fertility;（2）The mutation of the 2nd exon in HOXA13 may not be the correlated etiological factor in patients with MDAs.