中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
5期
567-570
,共4页
何丹%郭纪锋%王磊%肖智权%聂利珞%张学伟%唐北沙
何丹%郭紀鋒%王磊%肖智權%聶利珞%張學偉%唐北沙
하단%곽기봉%왕뢰%초지권%섭리락%장학위%당북사
家族性常染色体隐性遗传早发性帕金森综合征%ATP13A2基因%基因突变
傢族性常染色體隱性遺傳早髮性帕金森綜閤徵%ATP13A2基因%基因突變
가족성상염색체은성유전조발성파금삼종합정%ATP13A2기인%기인돌변
familial autosomal recessive early-onset parkinsonism%ATP13A2 gene%gene mutation
目的 探讨常染色体隐性遗传早发性帕金森综合征(autosomal recessive early-onset parkinsonism,AREP)家系患者中ATP13A2基因的突变特点.方法 应用聚合酶链反应结合DNA直接序列分析方法对25个已排除Parkin,DJ-1和PINK1基因纯合突变及复合杂合突变的AREP家系共46例患者进行ATP13A2基因突变分析.结果 AREP患者中未发现ATP13A2基因的致病突变,发现了6个已知多态,为IVS6+70A>G、IVS12+66A>G、m1849C>T、IVS20-56 G>A、m2671C>T和m2824G>A.结论 家族性AREP患者中ATP13A2基因的突变可能罕见.
目的 探討常染色體隱性遺傳早髮性帕金森綜閤徵(autosomal recessive early-onset parkinsonism,AREP)傢繫患者中ATP13A2基因的突變特點.方法 應用聚閤酶鏈反應結閤DNA直接序列分析方法對25箇已排除Parkin,DJ-1和PINK1基因純閤突變及複閤雜閤突變的AREP傢繫共46例患者進行ATP13A2基因突變分析.結果 AREP患者中未髮現ATP13A2基因的緻病突變,髮現瞭6箇已知多態,為IVS6+70A>G、IVS12+66A>G、m1849C>T、IVS20-56 G>A、m2671C>T和m2824G>A.結論 傢族性AREP患者中ATP13A2基因的突變可能罕見.
목적 탐토상염색체은성유전조발성파금삼종합정(autosomal recessive early-onset parkinsonism,AREP)가계환자중ATP13A2기인적돌변특점.방법 응용취합매련반응결합DNA직접서렬분석방법대25개이배제Parkin,DJ-1화PINK1기인순합돌변급복합잡합돌변적AREP가계공46례환자진행ATP13A2기인돌변분석.결과 AREP환자중미발현ATP13A2기인적치병돌변,발현료6개이지다태,위IVS6+70A>G、IVS12+66A>G、m1849C>T、IVS20-56 G>A、m2671C>T화m2824G>A.결론 가족성AREP환자중ATP13A2기인적돌변가능한견.
Objective To investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP). Methods Mutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP. Results No pathogenic mutations in ATP13A2 gene were detected in this group. Six reported polymorphisms were identified. They were IVS6+70A>G, IVS12+66A>G, m.1849C>T, IVS20-56 G>A, m2671C>T and m2824G>A. Conclusion ATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.
