摘要
目的探讨中国子宫畸形患者中HOXA13基因同源结构域是否存在突变及其相关性分析。方法国外文献报道手-足-生殖器综合征(hand-foot-genital syndrome,HFGS)患者中发现HOXA13基因2号外显子同源结构域存在点突变,而此综合征的女性患者部分症状表现为子宫畸形,因此对58例中国子宫畸形患者和54例正常对照者进行HOXA13基因同源结构域检测,PCR扩增目的片断后自动化测序分析基因2号外显子同源结构域区域。结果HOXA13基因同源结构域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。结论中国妇女子宫畸形的发生可能与HOXA13基因同源结构域突变无关。
Objective： To investigate whether or not HOXA13 gene homeedomain mutation existed in Chinese patients with uterus abnormalities as well as associativity analyzing. Methods ： Abroad literatures reported that point mutation in homeedomain of exon 2 in HOXA13 gene were found in patients with hand -foot -genital syndrome （HFGS）, and the symptome of the female patients with the syndrome partly showed off uterus abnormalities, then HOXA13 gene was detected in 58 Chinese patients with uterus abnormalities and 54 control individuals. PCR amplificated the objective fragments and the homeodomain of HOXA13 gene was sequenced in patients and controls. Results： Directed automatic sequencing of the homeodomain of HOXA13 gene reveals that no mutations were found in patients and controls. Conclusion： The homeedomain mutation of HOXA13 gene may not be the correlated etiological factors which lead to uterus abnormalities in Chinese patients.
出处
《中国优生与遗传杂志》
2007年第6期20-21,共2页
Chinese Journal of Birth Health & Heredity
基金
国家自然基金资助(30470703)
山东省2004年度重大科技专项(SDSP2004-0720)
