将1型遗传性运动感觉神经病（CMT 1a）基因定位于17p11.2 - p12。
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.
作者信息
Timmerman V, Raeymaekers P, De Jonghe P, De Winter G, Swerts L, Jacobs K, Gheuens J, Martin J J, Vandenberghe A, Van Broeckhoven C
机构信息
Department of Biochemistry, University of Antwerp, Belgium.
出版信息
Am J Hum Genet. 1990 Oct;47(4):680-5.
Abstract
Charcot-Marie-Tooth disease type 1a (CMT 1a) is an autosomal dominant peripheral neuropathy linked to the DNA markers D17S58 and D17S71, located in the pericentromeric region of the chromosome 17p arm. We analyzed an extended 5-generation Belgian family, multiply affected with CMT 1a, for linkage with eight chromosome 17 markers. The results indicated that the CMT 1a mutation is localized in the chromosomal region 17p11.2-p12 between the marker D17S71 and the gene for myosin heavy polypeptide 2 of adult skeletal muscle.
摘要
1A型遗传性运动感觉神经病（CMT 1a）是一种常染色体显性周围神经病，与位于17号染色体短臂着丝粒周围区域的DNA标记D17S58和D17S71相关。我们分析了一个五代的比利时大家庭，该家族多名成员患有CMT 1a，对其进行了与8个17号染色体标记的连锁分析。结果表明，CMT 1a突变定位于标记D17S71与成人骨骼肌肌球蛋白重链多肽2基因之间的染色体区域17p11.2 - p12。
相似文献
1
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.将1型遗传性运动感觉神经病（CMT 1a）基因定位于17p11.2 - p12。
Am J Hum Genet. 1990 Oct;47(4):680-5.
2
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.
Genomics. 1991 Apr;9(4):623-8. doi: 10.1016/0888-7543(91)90355-i.
3
Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).伴有夏科-马里-图斯神经病变（遗传性运动感觉神经病I型）的一个大家庭中突变的定位。
Am J Hum Genet. 1989 Dec;45(6):953-8.
4
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.1A型遗传性运动感觉神经病与17号染色体的连锁关系。
Exp Neurol. 1989 May;104(2):186-9. doi: 10.1016/s0014-4886(89)80013-5.
5
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.17号染色体p11.2区域重复与1型遗传性运动感觉神经病a型（CMT 1a）。遗传性运动感觉神经病协作研究组。
Neuromuscul Disord. 1991;1(2):93-7. doi: 10.1016/0960-8966(91)90055-w.
6
Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17.遗传性运动感觉神经病1A型（CMT1A）致病基因座定位于17号染色体。
Genomics. 1990 Jul;7(3):408-15. doi: 10.1016/0888-7543(90)90175-t.
7
Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.遗传性运动和感觉性神经病I型与17号染色体着丝粒周围区域的连锁关系。
Am J Hum Genet. 1990 Jan;46(1):92-4.
8
9
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.17号染色体11.2p重复在1型遗传性运动感觉神经病（CMT1a）中的大小估计。遗传性运动感觉神经病协作研究组。
J Med Genet. 1992 Jan;29(1):5-11. doi: 10.1136/jmg.29.1.5.
10
Charcot-Marie-Tooth neuropathy type 1A mutation: apparent crossovers with D17S122 are due to a duplication.
Am J Med Genet. 1992 Nov 1;44(4):455-60. doi: 10.1002/ajmg.1320440414.
引用本文的文献
1
Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases.靶向 PMP22 基因剂量疾病啮齿动物模型中的 PI3K/Akt/mTOR 信号通路。
EMBO Mol Med. 2024 Mar;16(3):616-640. doi: 10.1038/s44321-023-00019-5. Epub 2024 Feb 21.
2
Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.越南确诊的遗传性运动感觉神经病患者的基因型-表型特征。
Brain Behav. 2022 Sep;12(9):e2744. doi: 10.1002/brb3.2744. Epub 2022 Aug 8.
3
Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.外周髓鞘蛋白 22 调节储存操纵钙通道活性，为恰-克-毛二氏病病因提供了新见解。
J Biol Chem. 2019 Aug 9;294(32):12054-12065. doi: 10.1074/jbc.RA118.006248. Epub 2019 Jun 18.
4
A Review of Copy Number Variants in Inherited Neuropathies.遗传性神经病中拷贝数变异的综述
Curr Genomics. 2018 Sep;19(6):412-419. doi: 10.2174/1389202919666180330153316.
5
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.人类基因组计划成功背景下的腓骨肌萎缩症（CMT）的遗传学研究
Genes (Basel). 2014 Jan 22;5(1):13-32. doi: 10.3390/genes5010013.
6
The PMP22 gene and its related diseases.PMP22 基因及其相关疾病。
Mol Neurobiol. 2013 Apr;47(2):673-98. doi: 10.1007/s12035-012-8370-x. Epub 2012 Dec 7.
7
8
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.在两个患有与早发性青光眼相关的常染色体隐性遗传性脱髓鞘型夏科-马里-图思病的家族中，MTMR13（MTMR2和Sbf1的一种新的假磷酸酶同源物）发生了突变。
Am J Hum Genet. 2003 May;72(5):1141-53. doi: 10.1086/375034. Epub 2003 Apr 8.
9
Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a).遗传性运动和感觉神经病1a型（HMSN1a）的免疫学研究
J Neurol Neurosurg Psychiatry. 2002 Feb;72(2):230-5. doi: 10.1136/jnnp.72.2.230.
10
The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.140万个碱基对的遗传性运动感觉神经病1A型（CMT1A）重复/遗传性压迫易感性神经病（HNPP）缺失基因组区域揭示了独特的基因组结构特征，并为新基因的近期进化提供了见解。
Genome Res. 2001 Jun;11(6):1018-33. doi: 10.1101/gr.180401.
本文引用的文献
1
Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.夏科-马里-图思神经病变与1号染色体上达菲血型位点连锁的证据。
Am J Hum Genet. 1982 May;34(3):388-94.
2
Easy calculations of lod scores and genetic risks on small computers.在小型计算机上轻松计算连锁分析计分和遗传风险。
Am J Hum Genet. 1984 Mar;36(2):460-5.
3
Neuroepidemiology.神经流行病学
Ann Neurol. 1984 Sep;16(3):265-77. doi: 10.1002/ana.410160302.
4
Genomic sequencing.基因组测序
Proc Natl Acad Sci U S A. 1984 Apr;81(7):1991-5. doi: 10.1073/pnas.81.7.1991.
5
Genetic and clinical aspects of Charcot-Marie-Tooth's disease.夏科-马里-图思病的遗传学与临床特征
Clin Genet. 1974;6(2):98-118. doi: 10.1111/j.1399-0004.1974.tb00638.x.
6
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.
7
Absence of linkage with the Duffy blood group in a family with Charcot-Marie-Tooth neuropathy.一个患有夏科-马里-图思神经病的家族中与达菲血型无连锁关系。
J Neurol Sci. 1988 Dec;88(1-3):145-50. doi: 10.1016/0022-510x(88)90212-2.
8
Genetic analysis of NF1: identification of close flanking markers on chromosome 17.神经纤维瘤病1型（NF1）的基因分析：17号染色体上紧密侧翼标记的鉴定
Genomics. 1987 Dec;1(4):340-5. doi: 10.1016/0888-7543(87)90034-6.
9
Isolation and mapping of a polymorphic DNA sequence pHHH202 on chromosome 17 [D17S33].17号染色体上多态性DNA序列pHHH202 [D17S33]的分离与定位
Nucleic Acids Res. 1988 Jan 25;16(2):781. doi: 10.1093/nar/16.2.781.
10
A polymorphic human myosin heavy chain locus is linked to an anonymous single copy locus (D17S1) at 17p13.
Cytogenet Cell Genet. 1986;43(1-2):117-20. doi: 10.1159/000132307.
Zotero 插件