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Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders
BACKGROUND: Newborn ovary homeobox (NOBOX) gene plays a critical role in the transcriptional regulation of oocyte-specific genes. Previous studies have demonstrated a pathogenic effect of NOBOX variants on premature ovarian insufficiency (POI) patients. Poor ovarian response (POR) is a risk factor f...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594122/ https://www.ncbi.nlm.nih.gov/pubmed/31293321 http://dx.doi.org/10.4103/jhrs.JHRS_112_18 |
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author | Batiha, Osamah Alahmad, Nour Alhoda Sindiani, Amer Bodoor, Khaldon Shaaban, Sherin Al-Smadi, Mohammad |
author_facet | Batiha, Osamah Alahmad, Nour Alhoda Sindiani, Amer Bodoor, Khaldon Shaaban, Sherin Al-Smadi, Mohammad |
author_sort | Batiha, Osamah |
collection | PubMed |
description | BACKGROUND: Newborn ovary homeobox (NOBOX) gene plays a critical role in the transcriptional regulation of oocyte-specific genes. Previous studies have demonstrated a pathogenic effect of NOBOX variants on premature ovarian insufficiency (POI) patients. Poor ovarian response (POR) is a risk factor for POI. Therefore, genetic variants in the NOBOX gene may also be studied as risk factors for POR development. AIMS: The aim of the study is to investigate the association between seven known NOBOX single-nucleotide polymorphisms (SNPs) and POR in Jordanian females. SETTINGS AND DESIGN: This was a case–control study of 60 females with POR for controlled ovarian hyperstimulation and 59 healthy females with no history of reproductive problems. Blood samples were collected from the participants and seven SNPs of NOBOX gene were screened. SUBJECTS AND METHODS: DNA was extracted from blood samples. Polymerase chain reaction with primers specific for seven known SNPs in NOBOX gene was used to amplify the specified region within the gene followed by Sanger sequencing. RESULTS: The seven SNPs investigated in this study, namely, rs77587352 (c.271G>T, p. Gly91Trp), rs7800847 (c.349C>T, p. Arg117Trp), rs193303102 (c.907C>T, p. Arg303X), rs193303103 (c.1025G>C, p. Ser342Thr), rs193303104 (c.1048G>T, p. Val350Leu), rs201947677 (c.1064G>A, p. Arg355His), and rs146227301 (c.1856C>T, p. Pro619Leu), only represent the wild-type allele in both females with POR and healthy participants. CONCLUSIONS: The results show that only monomorphic genotype of the NOBOX variants was found in Jordanian females studied. |
format | Online Article Text |
id | pubmed-6594122 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-65941222019-07-10 Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders Batiha, Osamah Alahmad, Nour Alhoda Sindiani, Amer Bodoor, Khaldon Shaaban, Sherin Al-Smadi, Mohammad J Hum Reprod Sci Original Article BACKGROUND: Newborn ovary homeobox (NOBOX) gene plays a critical role in the transcriptional regulation of oocyte-specific genes. Previous studies have demonstrated a pathogenic effect of NOBOX variants on premature ovarian insufficiency (POI) patients. Poor ovarian response (POR) is a risk factor for POI. Therefore, genetic variants in the NOBOX gene may also be studied as risk factors for POR development. AIMS: The aim of the study is to investigate the association between seven known NOBOX single-nucleotide polymorphisms (SNPs) and POR in Jordanian females. SETTINGS AND DESIGN: This was a case–control study of 60 females with POR for controlled ovarian hyperstimulation and 59 healthy females with no history of reproductive problems. Blood samples were collected from the participants and seven SNPs of NOBOX gene were screened. SUBJECTS AND METHODS: DNA was extracted from blood samples. Polymerase chain reaction with primers specific for seven known SNPs in NOBOX gene was used to amplify the specified region within the gene followed by Sanger sequencing. RESULTS: The seven SNPs investigated in this study, namely, rs77587352 (c.271G>T, p. Gly91Trp), rs7800847 (c.349C>T, p. Arg117Trp), rs193303102 (c.907C>T, p. Arg303X), rs193303103 (c.1025G>C, p. Ser342Thr), rs193303104 (c.1048G>T, p. Val350Leu), rs201947677 (c.1064G>A, p. Arg355His), and rs146227301 (c.1856C>T, p. Pro619Leu), only represent the wild-type allele in both females with POR and healthy participants. CONCLUSIONS: The results show that only monomorphic genotype of the NOBOX variants was found in Jordanian females studied. Wolters Kluwer - Medknow 2019 /pmc/articles/PMC6594122/ /pubmed/31293321 http://dx.doi.org/10.4103/jhrs.JHRS_112_18 Text en Copyright: © 2019 Journal of Human Reproductive Sciences http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Original Article Batiha, Osamah Alahmad, Nour Alhoda Sindiani, Amer Bodoor, Khaldon Shaaban, Sherin Al-Smadi, Mohammad Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders |
title | Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders |
title_full | Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders |
title_fullStr | Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders |
title_full_unstemmed | Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders |
title_short | Genetics of Female Infertility: Molecular Study of Newborn Ovary Homeobox Gene in Poor Ovarian Responders |
title_sort | genetics of female infertility: molecular study of newborn ovary homeobox gene in poor ovarian responders |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594122/ https://www.ncbi.nlm.nih.gov/pubmed/31293321 http://dx.doi.org/10.4103/jhrs.JHRS_112_18 |
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