中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
Chinese Journal of Medical Genetics
2015年
5期
687-690
,共4页
贺静%王蕾%唐新华%杨必成%苏洁%蒋馥蔓%朱宝生%张琦
賀靜%王蕾%唐新華%楊必成%囌潔%蔣馥蔓%硃寶生%張琦
하정%왕뢰%당신화%양필성%소길%장복만%주보생%장기
Duchenne进行性肌营养不良%Turner综合征%染色体G显带核型%多重连接依赖性探针扩增%微阵列比较基因组杂交%全基因组高通量测序
Duchenne進行性肌營養不良%Turner綜閤徵%染色體G顯帶覈型%多重連接依賴性探針擴增%微陣列比較基因組雜交%全基因組高通量測序
Duchenne진행성기영양불량%Turner종합정%염색체G현대핵형%다중련접의뢰성탐침확증%미진렬비교기인조잡교%전기인조고통량측서
Duchenne/Becker muscular dystrophy%Turner syndrome%G-banded karyotyping%Multiple ligation probe amplification%Array-based comparative genomic hybridization%Whole genome exon high-throughput sequencing
目的 分析一个X染色体短臂部分缺失伴Duchenne进行性肌营养不良家系Dystrophin基因的突变情况,以协助遗传咨询和产前诊断.方法 综合应用染色体G显带核型分析、多重连接依赖性探针扩增、微阵列比较基因组杂交、全基因组高通量测序对该家系的部分成员进行分析.结果 染色体核型显示该家系中2名女性和胎儿均为Xp部分缺失的携带者.多重连接依赖性探针扩增显示孕妇和胎儿均携带Dystrophin基因第52～79外显子缺失.微阵列比较基因组杂交、全基因组高通量测序和孕妇血浆胎儿游离DNA检测均显示孕妇及胎儿存在Xp21.1-p22.33缺失(＞30 Mb)与Xq27.2-q28重复(～10 Mb).结论 在该家系中,Xp部分缺失累及Dystrophin基因第52～79外显子.此外,Xp缺失造成该家系的女性携带者具有Turner综合征的特点.
目的 分析一箇X染色體短臂部分缺失伴Duchenne進行性肌營養不良傢繫Dystrophin基因的突變情況,以協助遺傳咨詢和產前診斷.方法 綜閤應用染色體G顯帶覈型分析、多重連接依賴性探針擴增、微陣列比較基因組雜交、全基因組高通量測序對該傢繫的部分成員進行分析.結果 染色體覈型顯示該傢繫中2名女性和胎兒均為Xp部分缺失的攜帶者.多重連接依賴性探針擴增顯示孕婦和胎兒均攜帶Dystrophin基因第52～79外顯子缺失.微陣列比較基因組雜交、全基因組高通量測序和孕婦血漿胎兒遊離DNA檢測均顯示孕婦及胎兒存在Xp21.1-p22.33缺失(＞30 Mb)與Xq27.2-q28重複(～10 Mb).結論 在該傢繫中,Xp部分缺失纍及Dystrophin基因第52～79外顯子.此外,Xp缺失造成該傢繫的女性攜帶者具有Turner綜閤徵的特點.
목적 분석일개X염색체단비부분결실반Duchenne진행성기영양불량가계Dystrophin기인적돌변정황,이협조유전자순화산전진단.방법 종합응용염색체G현대핵형분석、다중련접의뢰성탐침확증、미진렬비교기인조잡교、전기인조고통량측서대해가계적부분성원진행분석.결과 염색체핵형현시해가계중2명녀성화태인균위Xp부분결실적휴대자.다중련접의뢰성탐침확증현시잉부화태인균휴대Dystrophin기인제52～79외현자결실.미진렬비교기인조잡교、전기인조고통량측서화잉부혈장태인유리DNA검측균현시잉부급태인존재Xp21.1-p22.33결실(＞30 Mb)여Xq27.2-q28중복(～10 Mb).결론 재해가계중,Xp부분결실루급Dystrophin기인제52～79외현자.차외,Xp결실조성해가계적녀성휴대자구유Turner종합정적특점.
Objective To delineate a deletional mutation of the Dystrophin gene on the short arm of chromosome X in a family affected with Duchenne/Becker muscular dystrophy.Methods G-banded karyotyping, multiple ligation probe amplification(MLPA), array-based comparative genomic hybridization (array-CGH) and whole genome exon high-throughput sequencing were employed to delineate the mutation in the family.Results GTG banding has demonstrated deletion of the terminal part of the short arm of chromosome X in the fetus.The same deletion was also found in its mother and maternal grandmother.MLPA analysis has revealed removal of exons 52 to 79 of the Dystrophin gene.A 30 Mb deletion in Xp22.33-p21.1 and a 10 Mb duplication in Xq27.2-q28 were identified by array-CGH and whole genome exon high-throughput sequencing.Conclusion The Xp deletion has led to deletion of exons 52 to 79 of the Dystrophin gene in the family.The female carriers also had certain features of Turner syndrome due to the same deletion.
