Variation analysis of tousled like kinase 1 gene in patients with sporadic premature ovarian insufficiency

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.

摘要

tousled样激酶1是DNA修复家族的成员, 参与了染色质组装的调节, 并与欧洲女性的早绝经和卵巢早衰（POI）有关。但是, TLK1基因中的序列变异是否是POI起因仍不清楚。在这里, 我们对192例散发性POI患者进行了TLK1基因的直接测序。TLK1的所有外显子和外显子-内含子边界都被扩增和测序, 在POI中鉴定出六个已知的单核苷酸多态性, 包括rs149844334, rs11553951, rs757600673, rs2277339, rs113416007和rs17283147, 没有发现新的变异, 这表明TLK1编码区的序列变异可能在中国POI妇女中并不常见。TLK1在POI发病机制中的作用需要在来自中国和其他种族人群的较大人群中进一步研究。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• Premature ovarian insufficiency
• TLK1
• variation analysis
• polymerase chain reaction
• single-nucleotide polymorphism

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

This work was supported by the National Key Research & Developmental Program of China (2017YFC1001100), and the National Natural Science Foundation of China (81522018, 81471509).