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Dravet综合征SCN1A基因新生突变的来源研究 被引量:3

Analysis of parental origin of de novo SCN1A mutations in Dravet syndrome
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摘要 目的研究Dravet综合征患儿SCN1A基因新生突变的来源,为遗传咨询及产前基因诊断提供指导。方法收集Dravet综合征患儿及其父母外周血DNA,应用Sanger测序进行SCNlA基因突变检测,应用等位基因特异性PCR方法分析新生突变的家系突变等位基因的来源;对于父源等位基因存在新生突变的家系,提取其父亲精液DNA,分析精液细胞中是否存在突变。结果22例携带SCN1A新生突变的患儿中,19例(86.4%)的突变位于父源等位基因,3例(13.6%)位于母源等位基因。9例父源等位基因突变患儿父亲的精液细胞中均未发现相应突变。结论Dravet综合征患儿SCN1A基因新生突变多位于父源等位基因,患儿父亲精液中未发现基因突变,有待进一步研究。 Objective To analyze the parental origin of de novo SCN1A mutations in 2Z patients with Dravet syndrome (DS). Methods Clinical data and peripheral blood DNA of the patients and their parents were collected. SCN1A gene mutation was screened by polymerase chain reaction (PCR) and Sanger sequencing. For de novo mutations, allele-specific-PCR (AS-PCR) was used to determine their parental origins. Should the mutations be of paternal origin, semen specimen for their fathers was analyzed using PCR and Sanger sequencing for SCN1A gene mutations. Results The parental origins of 22 de novo mutations were successfully determined by AS-PCR. Nineteen (86. 40/00) of the mutations had a paternal origin and 3 (13.6%) had a maternal origin. For those with a paternal origin, semen samples from 9 fathers were analyzed, but no mutation was found. Conclusion The majority of de novo SCN1A mutations were of paternal origin. The same mutation was not found in semen samples from the fathers, for which deep sequencing may be necessary.
作者 孙慧慧 张月华 徐小菁 刘晓燕 吴希如 Sun Huihui , Zhang Yuehua , Xu Xiaojing , Liu Xiaoyan , Wu Xiru1 (Department of Pediatrics, Beijing Jishuitan Hospital, Beijing 100035, P.R. China) 2 (Department of Pediatrics, Peking University First Hospital, Beijing 100034, P.R. China)
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2015年第4期457-461,共5页 Chinese Journal of Medical Genetics
基金 国家自然科学基金面上项目(81171221)
关键词 DRAVET综合征 SCN1A基因 新生突变 等位基因特异性PCR Dravet syndrome SCNIA gene de novo mutation Allele-specific PCR
作者简介 通信作者:张月华,Email:zhangyhdr@126.com
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  • 1Dura-Trave T, Yoldi Petri ME, Gallinas-Victoriano F. Epilepsy in children in Navarre, Spain: epileptic seizure types and epileptic syndromes[J]. J Child Neurol, 2007, 22(7): 823-828. 被引量:1
  • 2Jansen FE, Sadleir LG, Harkin LA, et al. Severe myoclonic epilepsy of infancy (Dravet syndrome) : recognition and diagnosis in adults[J]. Neurology, 2006, 67(12): 2224-2226. 被引量:1
  • 3Ceulemans B. Overall management of patients with Dravet syndrome[J]. Dev Med Child Neurolc, 2011, 53( Suppl 2) : 19- 23. 被引量:1
  • 4Sakauchi M, Oguni H, Kato I, et al. Mortality in Dravet syndrome: search for risk factors in Japanese patients [J]. Epilepsia, 2011, 52( Suppl 2): 50-54. 被引量:1
  • 5孙慧慧,张月华,刘晓燕,马秀伟,吴沪生,许克铭,秦炯,戚豫,吴希如.婴儿严重肌阵挛癫痫钠离子通道SCN1A基因突变分析[J].中华医学遗传学杂志,2009,26(2):121-127. 被引量:3
  • 6Mulley JC, Scheffer IE, Petrou S, et al. SCN1A mutations and epilepsy[J]. Hum Mutat, 2005, 25(6): 535-542. 被引量:1
  • 7Marini C, Mei D, Helen Cross J, et al. MosaicSCN1A mutation in familial severe myoclonic epilepsy of infancy[J]. Epilepsia, 2006, 47(10): 1737-1740. 被引量:1
  • 8Morimoto M, Mazaki E, Nishimura A, et al. SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy [J]. Epilepsia, 2006, 47(10) : 1732-1736. 被引量:1
  • 9Sun H, Zhang Y, Liu X, et al. Analysis of SCNIA mutation and parental origin in patients with Dravet syndrome[J]. J Hum Genet, 2010, 55(7): 421-427. 被引量:1
  • 10Heron SE, Scheffer IE, Iona X, et al. De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin[J]. J Med Genet, 2010, 47(2): 137-141. 被引量:1

二级参考文献35

  • 1包新华,赵东红.Rett综合征的X染色体失活类型及其线粒体DNA的初步研究[J].中华儿科杂志,1995,33(4):229-231. 被引量:2
  • 2Caraballo RH, Fejerman N. Dravet syndrome: a study of 53 patients. EpilepsyRes, 2006, 70S: S231- 238. 被引量:1
  • 3Nabbout R, Gennaro E, Dalla Bernardina B, et al. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology, 2003, 60 : 1961-1967. 被引量:1
  • 4Yamakawa K. Na channel gene mutations in epilepsy the functional consequences. Epilepsy Res, 2006,70S : S218-222. 被引量:1
  • 5Claes L, Del Favero J, Ceulemans B, et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet, 2001, 68 : 1327-1332. 被引量:1
  • 6Harkin LA, McMahon JM, Iona X, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain, 2007, 130 : 843-852. 被引量:1
  • 7Baulac S, Gourfinkel-An I, Nabbout R, et al. Fever, genes and epilepsy. Lancet Neurol, 2004, 3 : 421-430. 被引量:1
  • 8Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res, 1988, 16 : 1215. 被引量:1
  • 9Ohmori I, Ouchida M, Ohtsuka Y, et al. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophs Res Commun, 2002, 295: 17-23. 被引量:1
  • 10Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCNIA, encoding a neuronal sodium channel, in two families with GEFS+2. NatGenet, 2000, 24: 343-345. 被引量:1

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