CAJ | 학술논문

目的分析研究我国北方地区假肥大性肌营养不良[分为杜克肌营养不良(DMD)和贝克肌营养不良(BMD)]患者抗肌萎缩蛋白基因突变的类型,断裂点的分布,并为临床应用奠定基础.方法采用多重连接探针扩增法(MLPA)检测59个来自北方地区DMD(51例)及BMD(8例)家系的男性患者及其父母的抗肌萎缩蛋白基因突变情况.结果从59个DMD/BMD家系的59例DMD/BMD患者中,检测到33例外显子缺失,6例外显子重复和l例点突变;内含子44是最常见的断裂点(n=13,33.3%),内含子50和45为第二位(n=11,28.2%)和第三位(n=8,20.5%).并发现2例为Leiden数据库中未报道的新发突变,即D,149的2个位点的重复突变(外显子3～7和外显子44)和D165的点突变[5208del(A)].1例患者为中国人群中未见报道的外显子22缺失.19例患者用MLPA方法未检测到突变.结论缺失突变主要发生在外显子45～50的中央热区,重复突变主要发生在基因的5'端,内含子44是中国北方人群DMD基因缺失最常见的断裂点.
목적 분석연구아국북방지구가비대성기영양불량[분위두극기영양불량(DMD)화패극기영양불량(BMD)]환자항기위축단백기인돌변적류형,단렬점적분포,병위림상응용전정기출.방법 채용다중련접탐침확증법(MLPA)검측59개래자북방지구DMD(51례)급BMD(8례)가계적남성환자급기부모적항기위축단백기인돌변정황.결과 종59개DMD/BMD가계적59례DMD/BMD환자중,검측도33예외현자결실,6예외현자중복화l례점돌변;내함자44시최상견적단렬점(n=13,33.3%),내함자50화45위제이위(n=11,28.2%)화제삼위(n=8,20.5%).병발현2례위Leiden수거고중미보도적신발돌변,즉D,149적2개위점적중복돌변(외현자3～7화외현자44)화D165적점돌변[5208del(A)].1례환자위중국인군중미견보도적외현자22결실.19례환자용MLPA방법미검측도돌변.결론 결실돌변주요발생재외현자45～50적중앙열구,중복돌변주요발생재기인적5'단,내함자44시중국북방인군DMD기인결실최상견적단렬점.
Objective To detect the DMD gene mutation sites and the regions of breakpoints in Duchenne/Becker muscular dystrophy (DMD/BMD) patients in northern China. Methods Multiplex amplifiable probe hybridization (MLPA) was used to detect the mutation in 59 cases (51 cases with DMD and 8 with BMD) from northern China and dystrophin gene mutations in their parents. Results From northern China and dystrophin gene mutations 59 families found gene deletions in 33 cases of 59 DMD/BMD patients (55.9%), duplications in 6 cases (10. 2%) and point mutation in one case (1.7%). Intron 44 was most frequently affected (n = 13, 33.3%), followed by intron 50 (n = 11, 28.2%) and intron 45 (n=8, 20.5%). The novel mutations were identified, in two patients including two independent duplications carried by patient D1 149 and a point mutation [5208del(A)] carried by patient D1 65, which were not included in Leiden database. In addition, an exon 22 deletion was found in one patient, which was the first reported case in Chinese patients. Conclusions Deletions are mostly located in the hotspot between exon 45 and 50. Duplications mostly occurred in the 5' end of the gene. Intron 44 is the most frequently affected breakpoint in northern Chinese population.