良性家族性新生儿惊厥的遗传异质性：8号染色体长臂上新基因座的鉴定
Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.
作者信息
Lewis T B, Leach R J, Ward K, O'Connell P, Ryan S G
机构信息
Department of Cellular and Structural Biology, University of Texas Health Science Center, San Antonio 78284.
出版信息
Am J Hum Genet. 1993 Sep;53(3):670-5.
Abstract
The syndrome of benign familial neonatal convulsions (BFNC) is a rare autosomal dominant disorder characterized by unprovoked seizures in the first few weeks of life. One locus for BFNC has been mapped to chromosome 20 in several pedigrees, but we have excluded linkage to chromosome 20 in one large kindred. In order to identify this novel BFNC locus, dinucleotide repeat markers distributed throughout the genome were used to screen this family. Maximum pairwise LOD scores of 4.43 were obtained with markers D8S284 and D8S256 on chromosome 8q. Multipoint analysis placed the BFNC locus in the interval spanned by D8S198-D8S274. This study establishes the presence of a new BFNC locus and confirms genetic heterogeneity of this disorder.
摘要
良性家族性新生儿惊厥（BFNC）综合征是一种罕见的常染色体显性疾病，其特征为在生命的最初几周内出现无诱因惊厥。在几个家系中，已将一个BFNC基因座定位于20号染色体，但我们在一个大家系中排除了与20号染色体的连锁关系。为了鉴定这个新的BFNC基因座，使用分布于整个基因组的二核苷酸重复标记对该家系进行筛查。在8号染色体q上的标记D8S284和D8S256获得了最大成对LOD分数4.43。多点分析将BFNC基因座定位于D8S198 - D8S274跨越的区间。本研究证实了一个新的BFNC基因座的存在，并确认了该疾病的遗传异质性。
相似文献
1
Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q.良性家族性新生儿惊厥的遗传异质性：8号染色体长臂上新基因座的鉴定
Am J Hum Genet. 1993 Sep;53(3):670-5.
2
Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q.良性家族性新生儿惊厥：遗传异质性的确认及8号染色体长臂上第二个基因座的进一步证据
Hum Genet. 1995 Apr;95(4):411-5. doi: 10.1007/BF00208966.
3
Evidence of a third locus for benign familial convulsions.良性家族性惊厥第三个基因座的证据。
J Child Neurol. 1996 May;11(3):211-4. doi: 10.1177/088307389601100310.
4
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.家族性偏瘫性偏头痛与一种良性家族性婴儿癫痫综合征的部分共分离现象。
Epilepsia. 1997 Aug;38(8):915-21. doi: 10.1111/j.1528-1157.1997.tb01257.x.
5
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.一个特发性癫痫家族中一个新型KQT样钾通道基因的孔突变。
Nat Genet. 1998 Jan;18(1):53-5. doi: 10.1038/ng0198-53.
6
Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.良性家族性新生儿惊厥与D20S19和D20S20连锁关系的确认。
Hum Genet. 1992 Apr;89(1):54-8. doi: 10.1007/BF00207042.
7
Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.阵发性运动诱发性运动障碍与婴儿惊厥：临床及连锁研究
Neurology. 2000 Jul 25;55(2):224-30. doi: 10.1212/wnl.55.2.224.
8
Benign familial neonatal convulsions linked to genetic markers on chromosome 20.与20号染色体上的遗传标记相关的良性家族性新生儿惊厥。
Nature. 1989 Feb 16;337(6208):647-8. doi: 10.1038/337647a0.
9
Replication analysis of a putative susceptibility locus (EGI) for idiopathic generalized epilepsy on chromosome 8q24.位于8号染色体q24区域的特发性全身性癫痫假定易感基因座（EGI）的复制分析
Epilepsia. 1998 Jul;39(7):715-20. doi: 10.1111/j.1528-1157.1998.tb01156.x.
10
[Preliminary linkage analysis of a Chinese family with benign familial infantile convulsion].[一个中国良性家族性婴儿惊厥家系的初步连锁分析]
Zhonghua Er Ke Za Zhi. 2004 Jun;42(6):424-8.
引用本文的文献
1
An estimating function approach to linkage heterogeneity.一种用于连锁异质性的估计函数方法。
J Genet. 2013 Dec;92(3):413-21. doi: 10.1007/s12041-013-0282-7.
2
Genetics of inherited human epilepsies.人类遗传性癫痫的遗传学
Dialogues Clin Neurosci. 2001 Mar;3(1):47-57. doi: 10.31887/DCNS.2001.3.1/igourfinkelan.
3
Made for "anchorin": Kv7.2/7.3 (KCNQ2/KCNQ3) channels and the modulation of neuronal excitability in vertebrate axons.锚定作用的靶点：Kv7.2/7.3（KCNQ2/KCNQ3）通道和脊椎动物轴突中神经元兴奋性的调节。
Semin Cell Dev Biol. 2011 Apr;22(2):185-92. doi: 10.1016/j.semcdb.2010.10.001. Epub 2010 Oct 19.
4
A KCNQ channel opener for experimental neonatal seizures and status epilepticus.一种用于实验性新生儿癫痫发作和癫痫持续状态的钾通道开放剂。
Ann Neurol. 2009 Mar;65(3):326-36. doi: 10.1002/ana.21593.
5
[Altered cerebral excitability and spreading depression. Causes for the comorbidity of epilepsy and migraine?].[大脑兴奋性改变与扩散性抑制。癫痫和偏头痛共病的原因？]
Nervenarzt. 2003 Oct;74(10):869-74. doi: 10.1007/s00115-003-1538-x. Epub 2003 Jun 18.
6
Neurodevelopmental liabilities in epilepsy.癫痫中的神经发育缺陷
Neurotox Res. 2003;5(1-2):45-52. doi: 10.1007/BF03033372.
7
Unraveling monogenic channelopathies and their implications for complex polygenic disease.解析单基因通道病及其对复杂多基因疾病的影响。
Am J Hum Genet. 2003 Apr;72(4):785-803. doi: 10.1086/374317. Epub 2003 Mar 7.
8
Genetics of childhood epilepsy.儿童癫痫的遗传学
Arch Dis Child. 2000 Feb;82(2):121-5. doi: 10.1136/adc.82.2.121.
9
Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.在2号染色体2q24-q33区域发现热性惊厥附加症伴发的全身性癫痫（GEFS+）的一个新基因座。
Am J Hum Genet. 1999 Nov;65(5):1396-400. doi: 10.1086/302621.
10
Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.良性成人家族性肌阵挛性癫痫基因定位于8号染色体q23.3-q24.1区域。
Am J Hum Genet. 1999 Sep;65(3):745-51. doi: 10.1086/302535.
本文引用的文献
1
Dominant benign neonatal seizures.显性良性新生儿惊厥
Dev Med Child Neurol. 1980 Oct;22(5):664-7.
2
The risks of seizure disorders among relatives of patients with childhood onset epilepsy.儿童期起病癫痫患者亲属患癫痫症的风险。
Neurology. 1982 Feb;32(2):174-9. doi: 10.1212/wnl.32.2.174.
3
Benign familial neonatal convulsions.良性家族性新生儿惊厥
Can J Neurol Sci. 1982 Aug;9(3):345-7. doi: 10.1017/s0317167100044188.
4
Benign familial neonatal-infantile seizures.良性家族性新生儿-婴儿惊厥
Am J Med Genet. 1983 Dec;16(4):595-9. doi: 10.1002/ajmg.1320160417.
5
Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines.环孢菌素A在建立爱泼斯坦-巴尔病毒转化的人淋巴母细胞系中的应用。
In Vitro. 1984 Nov;20(11):856-8. doi: 10.1007/BF02619631.
6
Familial neonatal and infantile seizures: an autosomal-dominant disorder.家族性新生儿和婴儿癫痫：一种常染色体显性疾病。
Am J Med Genet. 1984 Jul;18(3):455-9. doi: 10.1002/ajmg.1320180315.
7
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.一种将DNA限制性内切酶片段放射性标记至高比活度的技术。
Anal Biochem. 1983 Jul 1;132(1):6-13. doi: 10.1016/0003-2697(83)90418-9.
8
Polymorphic DNA region adjacent to the 5' end of the human insulin gene.人类胰岛素基因5'端相邻的多态性DNA区域。
Proc Natl Acad Sci U S A. 1981 Sep;78(9):5759-63. doi: 10.1073/pnas.78.9.5759.
9
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.人类多位点连锁分析：连锁检测与重组估计
Am J Hum Genet. 1985 May;37(3):482-98.
10
Benign familial neonatal seizures: clinical and electroencephalographic characteristics.良性家族性新生儿惊厥：临床及脑电图特征
Pediatr Neurol. 1986 Sep-Oct;2(5):272-5. doi: 10.1016/0887-8994(86)90018-4.
Zotero 插件