中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
1期
74-78
,共5页
李文%张美品%侯仲军%曾涛%汤斌%刘晓蓉
李文%張美品%侯仲軍%曾濤%湯斌%劉曉蓉
리문%장미품%후중군%증도%탕빈%류효용
皮质下带状灰质异位%癫痫%DCX基因%错义突变
皮質下帶狀灰質異位%癲癇%DCX基因%錯義突變
피질하대상회질이위%전간%DCX기인%착의돌변
X-linked subcortical laminar heterotopia%Epilepsy%DCX gene%Missense mutation
目的 对1例皮质下带状灰质异位伴癫痫患者进行Doublecort in (DCX)基因突变检测.方法 提取患者外周血基因组DNA,用PCR扩增其DCX基因所有外显子并测序,用PolyPhen-2软件进行致病突变分析.结果 发现患者DCX基因第6外显子存在1个新生错义突变c.971T＞C(p.Phe324Ser),该突变为杂合突变.PolyPhen-2分析其极可能为致病位点.结论 明确了1例皮质下带状灰质异位伴癫痫患者DCX基因的致病突变,这将有助于遗传咨询及产前诊断.
目的 對1例皮質下帶狀灰質異位伴癲癇患者進行Doublecort in (DCX)基因突變檢測.方法 提取患者外週血基因組DNA,用PCR擴增其DCX基因所有外顯子併測序,用PolyPhen-2軟件進行緻病突變分析.結果 髮現患者DCX基因第6外顯子存在1箇新生錯義突變c.971T＞C(p.Phe324Ser),該突變為雜閤突變.PolyPhen-2分析其極可能為緻病位點.結論 明確瞭1例皮質下帶狀灰質異位伴癲癇患者DCX基因的緻病突變,這將有助于遺傳咨詢及產前診斷.
목적 대1례피질하대상회질이위반전간환자진행Doublecort in (DCX)기인돌변검측.방법 제취환자외주혈기인조DNA,용PCR확증기DCX기인소유외현자병측서,용PolyPhen-2연건진행치병돌변분석.결과 발현환자DCX기인제6외현자존재1개신생착의돌변c.971T＞C(p.Phe324Ser),해돌변위잡합돌변.PolyPhen-2분석기겁가능위치병위점.결론 명학료1례피질하대상회질이위반전간환자DCX기인적치병돌변,저장유조우유전자순급산전진단.
Objective To detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy.Methods Mutation of the DCX gene was screened by PCR and direct sequencing.Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.Results A de novo missense mutation c.971T＞C (p.Phe324Ser) was discovered.Conclusion A diagnostic method for X-linked subcortical laminar heterotopia has been established,which may facilitate diagnosis and genetic counseling of patients featuring X-SCLH.
