中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2010年
7期
499-504
,共6页
杜鹃%廖书胜%胡雅岑%陈冲%罗莹莹%王银光%江泓%唐北沙%沈璐
杜鵑%廖書勝%鬍雅岑%陳遲%囉瑩瑩%王銀光%江泓%唐北沙%瀋璐
두견%료서성%호아잠%진충%라형형%왕은광%강홍%당북사%침로
痉挛性截瘫,遗传性%突变%蛋白质类
痙攣性截癱,遺傳性%突變%蛋白質類
경련성절탄,유전성%돌변%단백질류
Spastic paraplegia,hereditary%Mutation%Proteins
目的 探讨中国人群遗传性痉挛性截瘫11型(SPGll)基因突变频率及临床特点.方法 应用聚合酶链反应(PCR)结合直接测序方法对28个常染色体隐性遗传性痉挛性截瘫(ARHSP)家系先证者和14例散发痉挛性截瘫合并胼胝体发育不良患者进行SPG11基因突变分析.结果 共确诊10例SPG11家系,其中7个为ARHSP家系,3例为散发患者,共携带有13个SPG11基因新突变:c.5977C>T/p.Q1993X、c.4668T>A/p.Y1556X、c.6898_6899delCT/p.L2300AfsX23.38、c.3719_3720delTA/p.11240VfsX263、c.733_734delAT/p.M245VfsX246、c.7088_7089insATTA/p.Y2363X、c.2163_2164insT/p.1722Yfsx731、c.7101-7102insT/p.K2368X、c.6790_6791insC/p.12264PfsX2339、c.654_655delinsG/p.S218RfsX219、c.7151+4_7151+7delAGTA/p.K2384fsX2386、c.6355-21_6355-18delTCT、c.3004C>T/p.G1002X.SPG11在ARHSP家系的发病率约为25.0%(7/28),在ARHSP合并胼胝体发育不良(ARHSP-TCC)家系的发病率为6/6,在散发HSP-TCC患者中突变率为3/14.结论 对于中国人群而言,复杂型ARHSP和散发HSP-TCC患者应首先排除SPG11基因突变.
目的 探討中國人群遺傳性痙攣性截癱11型(SPGll)基因突變頻率及臨床特點.方法 應用聚閤酶鏈反應(PCR)結閤直接測序方法對28箇常染色體隱性遺傳性痙攣性截癱(ARHSP)傢繫先證者和14例散髮痙攣性截癱閤併胼胝體髮育不良患者進行SPG11基因突變分析.結果 共確診10例SPG11傢繫,其中7箇為ARHSP傢繫,3例為散髮患者,共攜帶有13箇SPG11基因新突變:c.5977C>T/p.Q1993X、c.4668T>A/p.Y1556X、c.6898_6899delCT/p.L2300AfsX23.38、c.3719_3720delTA/p.11240VfsX263、c.733_734delAT/p.M245VfsX246、c.7088_7089insATTA/p.Y2363X、c.2163_2164insT/p.1722Yfsx731、c.7101-7102insT/p.K2368X、c.6790_6791insC/p.12264PfsX2339、c.654_655delinsG/p.S218RfsX219、c.7151+4_7151+7delAGTA/p.K2384fsX2386、c.6355-21_6355-18delTCT、c.3004C>T/p.G1002X.SPG11在ARHSP傢繫的髮病率約為25.0%(7/28),在ARHSP閤併胼胝體髮育不良(ARHSP-TCC)傢繫的髮病率為6/6,在散髮HSP-TCC患者中突變率為3/14.結論 對于中國人群而言,複雜型ARHSP和散髮HSP-TCC患者應首先排除SPG11基因突變.
목적 탐토중국인군유전성경련성절탄11형(SPGll)기인돌변빈솔급림상특점.방법 응용취합매련반응(PCR)결합직접측서방법대28개상염색체은성유전성경련성절탄(ARHSP)가계선증자화14례산발경련성절탄합병변지체발육불량환자진행SPG11기인돌변분석.결과 공학진10례SPG11가계,기중7개위ARHSP가계,3례위산발환자,공휴대유13개SPG11기인신돌변:c.5977C>T/p.Q1993X、c.4668T>A/p.Y1556X、c.6898_6899delCT/p.L2300AfsX23.38、c.3719_3720delTA/p.11240VfsX263、c.733_734delAT/p.M245VfsX246、c.7088_7089insATTA/p.Y2363X、c.2163_2164insT/p.1722Yfsx731、c.7101-7102insT/p.K2368X、c.6790_6791insC/p.12264PfsX2339、c.654_655delinsG/p.S218RfsX219、c.7151+4_7151+7delAGTA/p.K2384fsX2386、c.6355-21_6355-18delTCT、c.3004C>T/p.G1002X.SPG11재ARHSP가계적발병솔약위25.0%(7/28),재ARHSP합병변지체발육불량(ARHSP-TCC)가계적발병솔위6/6,재산발HSP-TCC환자중돌변솔위3/14.결론 대우중국인군이언,복잡형ARHSP화산발HSP-TCC환자응수선배제SPG11기인돌변.
Objective To identify disease-causing mutations in a large panel of Chinese Han patients with hereditary spastic paraplegia(HSP).Methods The coding sequence of the SPG11 gene in the probands of 28 families with ARHSP and 14 sporadic HSP patients was analyzed,and the identified changes in the sequence were tested to exclude being a benign polymorphism by sequencing 200 chromosomes from normal controls.Results Identified 13 causative mutations in SPG11 gene in 7 ARHSP and 3 sporadic HSP The mutations were:c.5977C>T/p.Q1993X、c.4668T>A/p.Y1556X、c.6898_6899delCT/p.L2300AfsX23.38、c.3719_3720delTA/p.11240VfsX263、c.733_734delAT/p.M245VfsX246、c.7088_7089insATTA/p.Y2363X、c.2163_2164insT/p.1722Yfsx731、c.7101-7102insT/p.K2368X、c.6790_6791insC/p.12264PfsX2339、c.654_655delinsG/p.S218RfsX219、c.7151+4_7151+7delAGTA/p.K2384fsX2386、c.6355-21_6355-18delTCT、c.3004C>T/p.G1002X.Among them,12 were novel mutations.The rate of mutation in the SPG11 gene was 25.0%(7/28)in ARHSP,6/6 in ARHSP-TCC and 3/14 in sporadic cases.Conclusions In Chinese Han population,patients with ARHSP-TCC and sporadic HSP-TCC should be screened for SPG11.Sequencing of the SPG11 gene in these patients with is valuable for clinical diagnostic testing.
