摘要
目的研究新疆地区的正常育龄女性、反复生育失败或早发性卵巢功能不全患者脆性X智力低下1(FMR-1)基因的CGG重复序列。方法选取2019年8月1日-2020年6月30日在新疆医科大学第一附属医院生殖中心主动要求行FMR-1基因检测及有不明原因反复生育失败或早发性卵巢功能不全的育龄女性351例进行研究,根据民族分为A组(汉族)279例和B组(少数民族)72例,分析两组CGG重复序列及灰区分布情况。结果351例育龄女性中共发现20种不同的CGG重复数,最小24次,最大49次;两组最常见的CGG重复次数均为30次,其中A组73例,占26.16%;B组26例,占36.11%;共发现2例CGG重复序列灰区,未发现前突变及全突变病例,且2例灰区均在A组(CGG重复序列为45次和49次),发生率为0.72%,其中正常育龄女性灰区发生率为0.49%,反复妊娠失败及早发性卵巢功能不全育龄女性灰区发生率为1.35%。结论新疆少数民族与汉族FMR-1基因的CGG重复序列分布相同,未发现少数民族CGG重复序列灰区发生率较汉族高。汉族育龄女性中,反复生育失败和早发性卵巢功能不全患者较正常育龄女性灰区发生率高。
Objective To study the CGG repeat sequence of fragile X mental retardation 1(FMR-1)gene in reproductive-age females,patients with recurrent fertility failure or premature ovarian insufficiency in Xinjiang.Methods A total of 351 reproductive-age females who voluntarily requested FMR-1 gene detection and had unexplained recurrent reproductive failure or premature ovarian insufficiency in the Center for Reproductive Medicine,the First Affiliated Hospital of Xinjiang Medical University from August 1,2019 to June 30,2020 were enrolled in the study.According to the nationality,they were divided into group A(Han nationality)279 cases and group B(Minority nationality)72 cases.The CGG repeat sequence and grey area distribution of the two groups were analyzed.Results A total of 20 different CGG repeats were found in 351 reproductive-age females,with the minimum 24 times and the maximum 49 times;the most common CGG repeats in both groups were 30 times,of which 73 cases were in group A,accounting for 26.16%,26 cases were in group B,accounting for 36.11%.A total of 2 cases of CGG repeat grey areas were found,and no pre-mutation and full-mutation cases were found.The grey areas of the 2 cases were all in group A(CGG repeats were 45 and 49 times),with the incidence rate of 0.72%.The incidence rate of grey areas in normal reproductive-age females was 0.49%,and the incidence rate of grey areas in recurrent pregnancy failure and early onset of ovarian insufficiency females was 1.35%.Conclusion The distribution of CGG repeats in FMR-1 gene of ethnic minorities in Xinjiang is the same as that of Han nationality,and it is not found that the incidence of grey area of CGG repeats in ethnic minorities is higher than that of Han nationality.Among Han women of reproductive age,recurrent reproductive failure and early onset ovarian insufficiency have higher incidence of gray area than normal women of reproductive-age.
作者
张和江
田海清
ZHANG He-jiang;TIAN Hai-qing(Center for Reproductive Medicine,the First Affiliated Hospital of Xinjiang Medical University,Urumqi 830000,Xinjiang,China;Urumqi Xingfeng Community Health Service Station,Urumqi 830000,Xinjiang,China)
出处
《医学信息》
2022年第9期137-140,共4页
Journal of Medical Information
