| Title | Variation analysis of tousled like kinase 1 gene in patients with sporadic premature ovarian insufficiency |
| Authors | Xu, Xiaofei Su, Shizhen Cao, Yongzhi Zhao, Shidou Li, Weiping Qin, Yingying |
| Affiliation | Shandong Univ, Key Lab Reprod Endocrinol, Natl Res Ctr Assisted Reprod Technol & Reprod Gen, Ctr Reprod Med,Minist Educ, Jinan, Shandong, Peoples R China Peking Univ, Dept Obstet & Gynecol, Ctr Reprod Med, Minist Educ,Key Lab Assisted Reprod,Hosp 3, Beijing, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Ren Ji Hosp, Shanghai, Peoples R China |
| Keywords | MUTATIONS MENOPAUSE FAILURE BMP15 |
| Issue Date | 2-Jan-2020 |
| Publisher | GYNECOLOGICAL ENDOCRINOLOGY |
| Abstract | Tousled like kinase 1 (TLK1), a member of DNA repair family, participates in the regulation of chromatin assembly and is associated with early menopause and premature ovarian insufficiency (POI) in European women. However, whether the sequence variant in the TLK1 gene was causative for POI is still elusive. Here we performed direct sequencing of the TLK1 gene in 192 patients with sporadic POI. All exons and exon-intron boundaries of TLK1 were amplified and sequenced. Six known single-nucleotide polymorphisms were identified in POI, including rs149844334, rs11553951, rs757600673, rs2277339, rs113416007 and rs17283147. No novel variant was identified, which indicates that sequence variants in the coding region of TLK1 might be uncommon in Chinese women with POI. The role of TLK1 in POI pathogenesis needs to be further explored in larger cohorts from Chinese and other ethnic populations. |
| URI | http://hdl.handle.net/20.500.11897/584579 |
| ISSN | 0951-3590 |
| DOI | 10.1080/09513590.2019.1630606 |
| Indexed | SCI(E) |
| Appears in Collections: | 第三医院 |
