摘要
目的:探讨中国汉族苗勒管发育异常患者中HOXA13基因是否存在突变。方法:对58例中国汉族苗勒管发育异常患者(包括51例苗勒管融合不全患者、7例先天性无阴道无子宫患者)和54例正常对照者进行HOXA13基因检测。PCR扩增目的片断后,毛细管电泳分析HOXA13基因1号外显子多聚丙氨酸束和自动化测序分析基因2号外显子同源结构域。结果:HOXA13基因1号外显子毛细管电泳分析结果显示,患者和对照者毛细管电泳图均显示单一的PCR产物峰,提示没有发现多聚丙氨酸束片断长度改变或多态现象。2号外显子直接自动化测序分析结果显示,在患者和对照者中均没有突变发生。结论:中国汉族妇女苗勒管发育异常的发生可能与HOXA13基因的多聚丙氨酸束长度扩增或同源结构域突变无关。
Objective： To investigate whether HOXA13 gene mutation existed in Chinese Han patients with Müllerian duct abnormalities. Methods： HOXA13 gene was detected in 58 Chinese Han patients（including 51 patients with incomplete Müllerian fusion, 7 congenital absence of uterus and vagina （CAUV）） and 54 control individuals. The objective fragments were amplificated by PCR, the polyalanine tracts of exon 1 were aralyzed by capillary electrophoresis and the homeodomain of exon 2 was sequenced in the identical patients and the controls. Results： The result of capillary electrophoresis analysis of exon 1 displayed uniform PCR productive peak in all patients and controls which hints no length changes or polymorphism of polyalanine tracts. Directed automatic sequencing of exon 2 revealed that no mutations were found in patients and controls. Conclusions： The original research did not find mutations in HOXA13 gene detecting regions; length expansion of polyalanine tracts and homeodomain mutation of HOXA13 gene may not be the correlated etiological factors which lead to Müllerian duct abnormalities in Chinese Han patients.
出处
《生殖与避孕》
CAS
CSCD
北大核心
2007年第3期178-181,共4页
Reproduction and Contraception
基金
国家自然基金资助
项目号:30470703
山东省2004年度重大科技专项
项目号:SDSP2004-720
