FMR1型
卵巢早衰
桑格测序
卵巢储备
等位基因
三核苷酸重复扩增
脆性X综合征
生物
遗传学
医学
内科学
内分泌学
基因
突变
不育
怀孕
作者
Ali Eslami,Kamelia Farahmand,Mehdi Totonchi,Tahereh Madani,Ummulbanin Asadpour,Sharif Moradi,Hamid Gourabi,Anahita Mohseni Meybodi
标识
DOI:10.1080/14647273.2016.1255356
摘要
It is recognized that FMR1 premutation expansions are associated with premature ovarian failure (POF), but their role in diminished ovarian reserve (DOR) is not clearly established. Moreover, the impact of smaller repeats at the boundary of premutation and normal is less clear. Therefore, we have compared the frequency of these intermediate (45–54 repeats) and premutation (>55) sized FMR1 CGG repeats among a patients group including 188 DOR and 173 POF women and 200 controls. FSH and LH concentrations were also compared between intermediate and premutation ranges in patients. The 5′ UTR of FMR1 gene was amplified using PCR. The numbers of trinucleotide repeats were confirmed by the Sanger sequencing method. The frequency of premutation was higher in POF and DOR patients in comparison with controls, but the difference in the incidence of intermediate alleles was not statistically significant among these groups. The mean level of serum FSH was higher in patients with premutation than patients with intermediate alleles. Based on the current evidence, we concluded that intermediate-sized FMR1 CGG repeat alleles should not be considered as a high-risk factor for POF and DOR.
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