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Analysis of C43G mutation in the promoter region of the XIST gene in patients with idiopathic primary ovarian insufficiency.

Yoon SH, Choi YM - Clin Exp Reprod Med (2015)

Bottom Line: The purpose of this study was to investigate whether the XIST gene promoter mutation is associated with idiopathic POI in a sample of the Korean population.We found no cytosine to guanine (C43G) variation in the XIST gene in both POI patients and controls.The C43G mutation in the promoter region of the XIST gene was not present in the Korean patients with idiopathic POI in our study, in contrast to our expectation, suggesting that the role of XIST in the pathogenesis of POI is not yet clear.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, Graduate School of Medicine, Dongguk University, Seoul, Korea.

ABSTRACT

Objective: The XIST gene is considered to be an attractive candidate gene for skewed X-chromosome inactivation and a possible cause of primary ovarian insufficiency (POI). The purpose of this study was to investigate whether the XIST gene promoter mutation is associated with idiopathic POI in a sample of the Korean population.

Methods: Subjects consisted of 102 idiopathic POI patients and 113 healthy controls with normal menstrual cycles. Patients with the following known causes of POI were excluded in advance: cytogenetic abnormalities, prior chemo- or radiotherapy, or prior bilateral oophorectomy. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism analysis.

Results: The mean age of onset of ovarian insufficiency was 28.7±8.5 years and the mean values of serum luteinizing and follicle-stimulating hormones and estradiol in the POI group were 31.4±18.2 mIU/mL, 74.5±41.1 mIU/mL, and 30.5±36.7 pg/mL, respectively. We found no cytosine to guanine (C43G) variation in the XIST gene in both POI patients and controls.

Conclusion: The C43G mutation in the promoter region of the XIST gene was not present in the Korean patients with idiopathic POI in our study, in contrast to our expectation, suggesting that the role of XIST in the pathogenesis of POI is not yet clear.

No MeSH data available.


Related in: MedlinePlus

C43G variant site and the HhaI recognition site in the promoter region of the XIST gene.
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Figure 1: C43G variant site and the HhaI recognition site in the promoter region of the XIST gene.

Mentions: The homozygous wild-type product yields a common cut, i.e., two fragments of 205 and 72 bp, when digested with HhaI. In the presence of a C43G variant, the product is cut into three fragments of 184, 72, and 21 bp for homozygous mutant type (Figure 1). The genotype for the C43G variation was successfully determined in all subjects. Our analysis showed no mutation in either the POI or the control group (Table 2). There were only two bands (205 and 72 bp in size) in all subjects. This result was confirmed by sequencing analysis in both the POI and control groups.


Analysis of C43G mutation in the promoter region of the XIST gene in patients with idiopathic primary ovarian insufficiency.

Yoon SH, Choi YM - Clin Exp Reprod Med (2015)

C43G variant site and the HhaI recognition site in the promoter region of the XIST gene.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4496432&req=5

Figure 1: C43G variant site and the HhaI recognition site in the promoter region of the XIST gene.
Mentions: The homozygous wild-type product yields a common cut, i.e., two fragments of 205 and 72 bp, when digested with HhaI. In the presence of a C43G variant, the product is cut into three fragments of 184, 72, and 21 bp for homozygous mutant type (Figure 1). The genotype for the C43G variation was successfully determined in all subjects. Our analysis showed no mutation in either the POI or the control group (Table 2). There were only two bands (205 and 72 bp in size) in all subjects. This result was confirmed by sequencing analysis in both the POI and control groups.

Bottom Line: The purpose of this study was to investigate whether the XIST gene promoter mutation is associated with idiopathic POI in a sample of the Korean population.We found no cytosine to guanine (C43G) variation in the XIST gene in both POI patients and controls.The C43G mutation in the promoter region of the XIST gene was not present in the Korean patients with idiopathic POI in our study, in contrast to our expectation, suggesting that the role of XIST in the pathogenesis of POI is not yet clear.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, Graduate School of Medicine, Dongguk University, Seoul, Korea.

ABSTRACT

Objective: The XIST gene is considered to be an attractive candidate gene for skewed X-chromosome inactivation and a possible cause of primary ovarian insufficiency (POI). The purpose of this study was to investigate whether the XIST gene promoter mutation is associated with idiopathic POI in a sample of the Korean population.

Methods: Subjects consisted of 102 idiopathic POI patients and 113 healthy controls with normal menstrual cycles. Patients with the following known causes of POI were excluded in advance: cytogenetic abnormalities, prior chemo- or radiotherapy, or prior bilateral oophorectomy. Genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism analysis.

Results: The mean age of onset of ovarian insufficiency was 28.7±8.5 years and the mean values of serum luteinizing and follicle-stimulating hormones and estradiol in the POI group were 31.4±18.2 mIU/mL, 74.5±41.1 mIU/mL, and 30.5±36.7 pg/mL, respectively. We found no cytosine to guanine (C43G) variation in the XIST gene in both POI patients and controls.

Conclusion: The C43G mutation in the promoter region of the XIST gene was not present in the Korean patients with idiopathic POI in our study, in contrast to our expectation, suggesting that the role of XIST in the pathogenesis of POI is not yet clear.

No MeSH data available.


Related in: MedlinePlus