کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3970332 1256718 2014 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mutations in HOXA11 are not responsible for Müllerian duct anomalies in Chinese patients
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی زنان، زایمان و بهداشت زنان
پیش نمایش صفحه اول مقاله
Mutations in HOXA11 are not responsible for Müllerian duct anomalies in Chinese patients
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Reproductive BioMedicine Online - Volume 28, Issue 6, June 2014, Pages 739–742
نویسندگان
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