Mutation analysis of FOXL2 gene in Chinese patients with premature ovarian failure

被引：13
|
作者：
Ni, Feng [2 ,3 ]
Wen, Qiaolian [4 ]
Wang, Binbin [4 ]
Zhou, Sirui [4 ]
Wang, Jing [4 ]
Mu, Yuan [4 ]
Ma, Xu [1 ,4 ,5 ]
Cao, Yunxia [2 ]
机构：
[1] Natl Res Inst Family Planning, Ctr Genet, Beijing 100081, Peoples R China
[2] Anhui Med Univ, Affiliated Hosp 1, Reprod Med Ctr, Hefei, Peoples R China
[3] 105th Hosp, Reprod Med Ctr, Hefei, Peoples R China
[4] Peking Union Med Coll, Grad Sch, Beijing, Peoples R China
[5] World Hlth Org Collaborating Ctr Res Human Reprod, Beijing, Peoples R China
来源：
GYNECOLOGICAL ENDOCRINOLOGY | 2010年 / 26卷 / 04期
关键词：
FOXL2; premature ovarian failure; BPES; sequencing; BLEPHAROPHIMOSIS/PTOSIS/EPICANTHUS INVERSUS SYNDROME; GENOTYPE-PHENOTYPE CORRELATION; BLEPHAROPHIMOSIS; PTOSIS; BPES;
D O I：
10.3109/09513590903225358
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Premature ovarian failure (POF) has recently been associated with mutations in Forkhead L2 (FOXL2) gene, which also being a candidate for blepharophimosis-ptosis-epicanthus inversus (BPES) syndrome. In the current study, we performed a screening analysis by polymerase chain reaction and direct sequencing in 118 patients, including one with BPES and her family of six members. The results came back with no novel mutations but one common 30 bp duplication within FOXL2 polyalanine tract in the abovementioned POF plus BPES patient, suggesting mutations in FOXL2 gene was not common among Chinese patients with POF.</.
引用
收藏
页码：246 / 249
页数：4
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