CAJ | 학술논문

目的研究特发性低促性腺激素性腺功能低下(idiopathic hypogonadotropic hypogonadism,IHH)患者NR5A1基因新的突变位点.方法收集病例组IHH患者61例,该组患者核型正常,头颅MRI扫描正常,同时排除其他内分泌疾病,正常对照组100名.提取两组实验对象外周血白细胞DNA,分别设计NR5A1基因2～7号外显子引物,聚合酶链式反应扩增其编码序列和剪接位点,采用双脱氧末段终止法测序.将测序结果与正常人基因组进行比对,同时对患者进行家系调查,收集临床资料,并对阳性患者基因型和临床表型进行分析.结果 61例IHH患者中6例患者出现了NR5A1基因的碱基改变.通过对100个种族及年龄匹配的对照组进行分析,没有发现NR5A1基因突变位点.结论病例组NR5A1基因检测出1种有意义的碱基改变,该突变可能与核型正常同时肾上腺功能正常的IHH男性患者发病有关.
목적 연구특발성저촉성선격소성선공능저하(idiopathic hypogonadotropic hypogonadism,IHH)환자NR5A1기인신적돌변위점.방법 수집병례조IHH환자61례,해조환자핵형정상,두로MRI소묘정상,동시배제기타내분비질병,정상대조조100명.제취량조실험대상외주혈백세포DNA,분별설계NR5A1기인2～7호외현자인물,취합매련식반응확증기편마서렬화전접위점,채용쌍탈양말단종지법측서.장측서결과여정상인기인조진행비대,동시대환자진행가계조사,수집림상자료,병대양성환자기인형화림상표형진행분석.결과 61례IHH환자중6례환자출현료NR5A1기인적감기개변.통과대100개충족급년령필배적대조조진행분석,몰유발현NR5A1기인돌변위점.결론 병례조NR5A1기인검측출1충유의의적감기개변,해돌변가능여핵형정상동시신상선공능정상적IHH남성환자발병유관.
Objective To study the NR5A1 gene mutation in patients with idiopathic hypogonadotropic hypogonadism(IHH), and to find the new mutation point.Methods Sixty-one IHH patients and 100 normal control subjects were collected and genomic DNA was extracted from blood samples.These patients were with normal karyotype and no abnormality was discovered in magnetic resonance imaging (MRI) scan of the pituitary.Other endocrine diseases were also excluded.The 2-7 exons and splice-sites of NR5A1 gene were amplified with polymerase chain reaction.DNA of the coding sequence and splice-sites of NR5A 1 were sequenced by double deoxidizing terminal end sequencing method in 61 IHH and 100 normal control subjects.The results of sequencing were compared with their corresponding sequence data.61 IHH kindreds were investigated and the clinical data of these patients were collected.Finally, the phenotype and genotype positive cases were analyzed.Results Six patients carried NR5A1 gene mutational sites in 61 cases of IHH.Analysis of sequencing results from 100 age and ethnicity matched control subjects did not show any of these novel changes.Conclusions One mutation in NR5A1 gene may affect protein structure and function, which should be considered in male IHH patients with normal karyotype and without insufficiency of adrenal function.