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
1期
6-10
,共5页
张亚南%徐芳%谭跃球%胡建成%王华
張亞南%徐芳%譚躍毬%鬍建成%王華
장아남%서방%담약구%호건성%왕화
基因组拷贝数变异%1p36微缺失/微重复%癫痫%PEX10基因
基因組拷貝數變異%1p36微缺失/微重複%癲癇%PEX10基因
기인조고패수변이%1p36미결실/미중복%전간%PEX10기인
Copy number variation%1p36 microdeletion/microduplication%Epilepsy%PEX10 gene
目的 通过3个1p36区域的拷贝数变异病例,探讨1p36区PEX10基因与该区域拷贝数变异并发癫痫的相关性.方法 应用高分辨染色体显带、多重连接依赖性探针扩增(multiplex ligationdependent probe amplification,MLPA)、荧光原位杂交(fluorescence in situ hybridization,FISH)结合单核苷酸多态阵列(single nucleotide polymorphism array,SNP)芯片技术确定3例患者的核型,应用实时PCR检测患者外周血中PEX10基因的mRNA表达水平.结果 高分辨染色体检测未检出3例患者核型异常,MLPA分析显示3例患者均存在1p亚端粒区拷贝数变异,FISH证实该区域拷贝数变异,SNP芯片确认该区域变异范围,其中例1和例2有癫痫的症状,拷贝数异常区域包括PEX10基因,而例3无癫痫的症状,其PEX10基因拷贝数正常.家系分析显示3例均为新发生的染色体异常.实时PCR发现,与正常人相比,例1的PEX10基因的mRNA水平表达量提高,例2的PEX10基因的mRNA水平表达量降低.结论 PEX10基因的拷贝数变异导致PEX10基因mRNA水平表达异常,可能与该区域伴发的癫痫有关.
目的 通過3箇1p36區域的拷貝數變異病例,探討1p36區PEX10基因與該區域拷貝數變異併髮癲癇的相關性.方法 應用高分辨染色體顯帶、多重連接依賴性探針擴增(multiplex ligationdependent probe amplification,MLPA)、熒光原位雜交(fluorescence in situ hybridization,FISH)結閤單覈苷痠多態陣列(single nucleotide polymorphism array,SNP)芯片技術確定3例患者的覈型,應用實時PCR檢測患者外週血中PEX10基因的mRNA錶達水平.結果 高分辨染色體檢測未檢齣3例患者覈型異常,MLPA分析顯示3例患者均存在1p亞耑粒區拷貝數變異,FISH證實該區域拷貝數變異,SNP芯片確認該區域變異範圍,其中例1和例2有癲癇的癥狀,拷貝數異常區域包括PEX10基因,而例3無癲癇的癥狀,其PEX10基因拷貝數正常.傢繫分析顯示3例均為新髮生的染色體異常.實時PCR髮現,與正常人相比,例1的PEX10基因的mRNA水平錶達量提高,例2的PEX10基因的mRNA水平錶達量降低.結論 PEX10基因的拷貝數變異導緻PEX10基因mRNA水平錶達異常,可能與該區域伴髮的癲癇有關.
목적 통과3개1p36구역적고패수변이병례,탐토1p36구PEX10기인여해구역고패수변이병발전간적상관성.방법 응용고분변염색체현대、다중련접의뢰성탐침확증(multiplex ligationdependent probe amplification,MLPA)、형광원위잡교(fluorescence in situ hybridization,FISH)결합단핵감산다태진렬(single nucleotide polymorphism array,SNP)심편기술학정3례환자적핵형,응용실시PCR검측환자외주혈중PEX10기인적mRNA표체수평.결과 고분변염색체검측미검출3례환자핵형이상,MLPA분석현시3례환자균존재1p아단립구고패수변이,FISH증실해구역고패수변이,SNP심편학인해구역변이범위,기중례1화례2유전간적증상,고패수이상구역포괄PEX10기인,이례3무전간적증상,기PEX10기인고패수정상.가계분석현시3례균위신발생적염색체이상.실시PCR발현,여정상인상비,례1적PEX10기인적mRNA수평표체량제고,례2적PEX10기인적mRNA수평표체량강저.결론 PEX10기인적고패수변이도치PEX10기인mRNA수평표체이상,가능여해구역반발적전간유관.
Objective To assess the association of PEX10 gene and 1p36 copy number variations in 1p36 region with concurrent epilepsy through analyzing 3 cases.Methods The karyotypes of 3 patients were determined by high resolution chromosome banding,multiplex ligation-dependent probe amplification (MLPA),fluorescence in situ hybridization (FISH) combined with single nucleotide polymorphism array (SNP) technology.Real-time PCR was carried out to determine the mRNA levels of PEX10 gene in peripheral blood of the patients.Results No abnormality was found upon high resolution karyotyping.MLPA analysis showed that all of the 3 patients had a copy number variation of subtelomeric region in the short arm of chromosome 1,which was confirmed by FISH and SNP chip analyses.Case 1 and case 2 both had an epilepsy phenotype,and their copy number variations have encompassed the PEX10 gene.On the other hand,case 3 has absent epilepsy,and its PEX10 gene copy number was normal.Family investigation confirmed that the chromosome abnormalities in all of the 3 cases were of de novo type.Compared with healthy controls,real time-PCR showed that mRNA of the PEX10 gene was increased in case 1 but decreased in case 2.Conclusion The abnormal expression of PEX10 gene resulting from copy number variations of 1p36 region may be associated with the epilepsy phenotype.
