CLN5明确的染色体定位表明，至少有四个基因位点参与人类蜡样脂褐质沉积症的发病机制。
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.
作者信息
Savukoski M, Kestilä M, Williams R, Järvelä I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L
机构信息
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
出版信息
Am J Hum Genet. 1994 Oct;55(4):695-701.
Abstract
We demonstrate here that at least four genetically separate loci are involved in the pathogenesis of human neuronal ceroid lipofuscinoses (NCLs), fatal brain disorders of children. Earlier the assignments of the infantile and juvenile subtypes of NCL to 1p32 and 16p12 had revealed two loci; and here a variant subtype of the late-infantile form of NCL is mapped to a well-defined region on 13q21.1-q32, whereas the clinically similar, classical form of late-infantile NCL was found to represent the fourth, yet-unidentified NCL locus. The linkage disequilibrium was crucial for locus assignment in our highly limited family material, and the data exemplify the significance of this phenomenon in the random mapping of rare human diseases.
摘要
我们在此证明，至少有四个基因上相互独立的位点参与了人类神经元蜡样脂褐质沉积症（NCLs）的发病机制，这是一种儿童致命性脑部疾病。此前，婴儿型和青少年型NCL分别定位于1p32和16p12，已揭示了两个位点；在此，晚婴儿型NCL的一个变异亚型被定位到13q21.1-q32的一个明确区域，而临床上相似的经典晚婴儿型NCL被发现代表第四个尚未确定的NCL位点。连锁不平衡对于我们极为有限的家系材料中的位点定位至关重要，这些数据例证了这一现象在罕见人类疾病随机定位中的重要性。
相似文献
1
2
Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.晚发性婴儿神经元蜡样脂褐质沉积症的连锁分析
Am J Med Genet. 1995 Jun 5;57(2):348-9. doi: 10.1002/ajmg.1320570249.
3
Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.伴有嗜锇颗粒沉积的青少年型神经元蜡样脂褐质沉积症一种变异型的基因连锁分析
Neuropediatrics. 1997 Feb;28(1):21-2. doi: 10.1055/s-2007-973659.
4
Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.通过纤维荧光原位杂交技术对CLN5区域进行物理图谱的高效构建：13q22关键区域的精细定位与长距离重叠群覆盖
Genomics. 1996 Jul 1;35(1):71-8. doi: 10.1006/geno.1996.0324.
5
Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.神经元蜡样脂褐质沉积症（NCL）中的遗传异质性：证据表明晚发性婴儿型亚型（扬斯基-比尔绍斯基病；CLN2）并非青少年型或婴儿型亚型的等位基因形式。
Am J Hum Genet. 1993 Oct;53(4):931-5.
6
7
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.经典型和一种变异型晚发性婴儿神经元蜡样脂褐质沉积症的基因座定位于染色体11p15和15q21 - 23。
Hum Mol Genet. 1997 Apr;6(4):591-5. doi: 10.1093/hmg/6.4.591.
8
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.晚发性婴儿神经元蜡样脂褐质沉积症（CLN5）的一种变异形式并非巴顿病（斯皮尔曼-沃格特-舍格伦病，CLN3）的等位基因形式：排除与16号染色体CLN3区域的连锁关系。
Genomics. 1994 Mar 15;20(2):289-90. doi: 10.1006/geno.1994.1168.
9
Genetic analysis of Batten disease.巴顿病的基因分析。
J Inherit Metab Dis. 1993;16(4):787-90. doi: 10.1007/BF00711910.
10
Molecular genetics of neuronal ceroid lipofuscinoses.
Pediatr Res. 1992 Dec;32(6):645-8. doi: 10.1203/00006450-199212000-00003.
引用本文的文献
1
A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.溶酶体之谜：CLN5及其在理解神经元蜡样脂褐质沉积症中的意义
Cell Mol Life Sci. 2021 May;78(10):4735-4763. doi: 10.1007/s00018-021-03813-x. Epub 2021 Apr 1.
2
Mode of action and pharmacogenomic biomarkers for exceptional responders to didemnin B.对海兔毒素B超敏反应者的作用模式及药物基因组生物标志物
Nat Chem Biol. 2015 Jun;11(6):401-8. doi: 10.1038/nchembio.1797. Epub 2015 Apr 13.
3
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.神经元蜡样脂褐质沉积症蛋白质的细胞内定位与功能
Brain Pathol. 2004 Jan;14(1):77-85. doi: 10.1111/j.1750-3639.2004.tb00501.x.
4
The genetic spectrum of human neuronal ceroid-lipofuscinoses.人类神经元蜡样脂褐质沉积症的基因谱
Brain Pathol. 2004 Jan;14(1):70-6. doi: 10.1111/j.1750-3639.2004.tb00500.x.
5
The Finnish Disease Heritage III: the individual diseases.芬兰疾病遗传谱系III：个体疾病
Hum Genet. 2003 May;112(5-6):470-526. doi: 10.1007/s00439-002-0877-1. Epub 2003 Mar 8.
6
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.一种新的CLN6编码跨膜蛋白的突变导致人类和小鼠出现变异型神经元蜡样脂褐质沉积症。
Am J Hum Genet. 2002 Feb;70(2):324-35. doi: 10.1086/338190. Epub 2001 Dec 21.
7
Neuronal ceroid lipofuscinoses: a review.神经元蜡样脂褐质沉积症：综述
Ital J Neurol Sci. 1998 Oct;19(5):271-6. doi: 10.1007/BF00713852.
8
The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases.神经元蜡样脂褐质沉积症（巴顿病）：一类新型的溶酶体贮积病。
J Inherit Metab Dis. 1999 Jun;22(4):535-44. doi: 10.1023/a:1005564509027.
9
Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.隔离人群中的连锁不平衡图谱：芬兰实例再探讨
Proc Natl Acad Sci U S A. 1998 Oct 13;95(21):12416-23. doi: 10.1073/pnas.95.21.12416.
10
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.美国棕榈酰蛋白硫酯酶缺乏症的分子遗传学
J Clin Invest. 1998 Jul 15;102(2):361-70. doi: 10.1172/JCI3112.
本文引用的文献
1
Mutations of Bacteria from Virus Sensitivity to Virus Resistance.细菌从对病毒敏感到对病毒抗性的突变。
Genetics. 1943 Nov;28(6):491-511. doi: 10.1093/genetics/28.6.491.
2
Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: diagnostic criteria and nomenclature.早发性青少年神经元蜡样脂褐质沉积症或变异型扬斯基-比尔斯科夫斯基病：诊断标准与命名
J Inherit Metab Dis. 1993;16(2):230-2. doi: 10.1007/BF00710251.
3
Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.神经元蜡样脂褐质沉积症（NCL）中的遗传异质性：证据表明晚发性婴儿型亚型（扬斯基-比尔绍斯基病；CLN2）并非青少年型或婴儿型亚型的等位基因形式。
Am J Hum Genet. 1993 Oct;53(4):931-5.
4
Microsatellite polymorphism linkage map of human chromosome 13q.人类13号染色体q臂的微卫星多态性连锁图谱。
Genomics. 1993 Feb;15(2):376-86. doi: 10.1006/geno.1993.1071.
5
A variant of Jansky-Bielschowsky disease.扬斯基-比尔绍斯基病的一种变体。
Neuropediatrics. 1982 Aug;13(3):135-41. doi: 10.1055/s-2008-1059612.
6
Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
7
Electron microscopic studies on skin and lymphocytes in early juvenile neuronal ceroid-lipofuscinosis.早发性青少年神经元蜡样脂褐质沉积症皮肤和淋巴细胞的电子显微镜研究
Brain Dev. 1987;9(6):576-80. doi: 10.1016/s0387-7604(87)80088-8.
8
Neuronal ceroid-lipofuscinoses in childhood.儿童期神经元蜡样脂褐质沉积症
Brain Dev. 1988;10(2):80-3. doi: 10.1016/s0387-7604(88)80075-5.
9
The Newfoundland aggregate of neuronal ceroid-lipofuscinosis.
Am J Med Genet Suppl. 1988;5:111-6. doi: 10.1002/ajmg.1320310615.
10
Detection of human papilloma virus in paraffin-embedded tissue using the polymerase chain reaction.利用聚合酶链反应检测石蜡包埋组织中的人乳头瘤病毒。
J Exp Med. 1988 Jan 1;167(1):225-30. doi: 10.1084/jem.167.1.225.
Zotero 插件