title: Mutations in HOXA11 are not responsible for Müllerian duct anomalies in Chinese patients.
abstract: As a member of the homeobox (HOX) gene family, HOXA11 is expressed in the primordia of lower uterus and cervix during fetal life and is essential for endometrial development and embryo implantation in the adults. The aim of the present study was to investigate whether mutations in HOXA11 contribute to Müllerian duct anomalies (MDA) in Chinese. A cohort of 192 patients with MDA and 192 healthy controls was enrolled. Genomic DNA was extracted. All exons and exon-intron boundaries were amplified and sequenced. One novel synonymous variant (c.774G>A) and one known single-nucleotide polymorphism were identified, both of which were not found in the matched controls. The results suggest that mutations in the coding region of HOXA11 are not common in Chinese women with MDA. As a member of the homeobox gene family, HOXA11 is expressed in the primordia of lower uterus and cervix during fetal life and is essential for endometrial development and embryo implantation in the adults. The aim of the present study was to investigate whether mutations in HOXA11 contribute to Müllerian duct anomalies (MDA) in Chinese. A cohort of 192 patients with MDA and 192 healthy controls was enrolled. Genomic DNA was extracted. All exons and exon-intron boundaries were amplified and sequenced. One novel synonymous variant (c.774G>A) and one known single-nucleotide polymorphism were identified, both of which were not found in the matched controls. The results suggest that mutations in the coding region of HOXA11 are not common in Chinese women with MDA.
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China; School of Nursing, Shandong University, 44 Wenhua Road, Jinan 250012, China.
authors.forename: Xinxia
authors.initials: X
authors.lastname: Chen
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China.
authors.forename: Guangyu
authors.initials: G
authors.lastname: Li
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China.
authors.forename: Yingying
authors.initials: Y
authors.lastname: Qin
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China.
authors.forename: Yuqian
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China.
authors.forename: Li
authors.initials: L
authors.lastname: You
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, Jinan 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, 324 Jingwu Road, Jinan 250021, China; Shandong Provincial Key Laboratory of Reproductive Medicine, 324 Jingwu Road, Jinan 250021, China; Center for Reproductive Medicine, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China. Electronic address: chenzijiang@hotmail.com.
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D044466:Asian People / Q000235:genetics; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities*; D009154:Mutation
chemical_list: C484298:HOXA11 protein, human; D018398:Homeodomain Proteins
keywords: HOXA11; MRKH syndrome; Müllerian duct anormalies; mutation; polymerase chain reaction; single-nucleotide polymorphism