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The screening of HELQ gene in Chinese patients with premature ovarian failure
- Source :
- Reproductive BioMedicine Online. 31:573-576
- Publication Year :
- 2015
- Publisher :
- Elsevier BV, 2015.
-
Abstract
- HELQ , a member of DNA repair gene family, is an enzyme required for DNA strands cross-links repair and closely related to age at natural menopause. It also possesses a critical role in the germ cell maintenance, and loss of HELQ gene leads to subfertility. The aim of the present study was to investigate whether mutations in HELQ contribute to premature ovarian failure (POF) in Chinese women. A cohort of 192 patients with POF was enrolled. All exons and exon–intron boundaries of genomic DNA were amplified and sequenced. Six known single-nucleotide polymorphisms were identified in both POF and control groups, including rs1494961, rs13141136, rs7665103, rs11099600, rs2047210 and rs12645412. No mutation was identified. Our study indicates for the first time that mutations in the coding sequence of the HELQ gene may not be responsible for premature ovarian failure in Chinese Han population.
- Subjects :
- Adult
China
endocrine system diseases
DNA repair
DNA Mutational Analysis
Primary Ovarian Insufficiency
Biology
Bioinformatics
medicine.disease_cause
Polymorphism, Single Nucleotide
Cohort Studies
Exon
Asian People
medicine
Humans
Coding region
Genetic Testing
Gene
Genetics
Mutation
DNA Helicases
Obstetrics and Gynecology
Exons
medicine.disease
Introns
Premature ovarian failure
genomic DNA
medicine.anatomical_structure
Reproductive Medicine
Case-Control Studies
Female
Germ cell
Developmental Biology
Subjects
Details
- ISSN :
- 14726483
- Volume :
- 31
- Database :
- OpenAIRE
- Journal :
- Reproductive BioMedicine Online
- Accession number :
- edsair.doi.dedup.....24dfe43a7099a162fb4dea0b03305909