3号染色体p22 - p24区域上伴有咳嗽和胃食管反流的遗传性感觉神经病的一个基因座。
A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.
作者信息
Kok C, Kennerson M L, Spring P J, Ing A J, Pollard J D, Nicholson G A
机构信息
Neurobiology Laboratory, ANZAC Research Institute, University of Sydney, Sydney, Australia.
出版信息
Am J Hum Genet. 2003 Sep;73(3):632-7. doi: 10.1086/377591. Epub 2003 Jul 17.
Abstract
Hereditary sensory neuropathy type I (HSN I) is a group of dominantly inherited degenerative disorders of peripheral nerve in which sensory features are more prominent than motor involvement. We have described a new form of HSN I that is associated with cough and gastroesophageal reflux. To map the chromosomal location of the gene causing the disorder, a 10-cM genome screen was undertaken in a large Australian family. Two-point analysis showed linkage to chromosome 3p22-p24 (Zmax=3.51 at recombination fraction (theta) 0.0 for marker D3S2338). A second family with a similar phenotype shares a different disease haplotype but segregates at the same locus. Extended haplotype analysis has refined the region to a 3.42-cM interval, flanked by markers D3S2336 and D3S1266.
摘要
遗传性感觉神经病I型（HSN I）是一组常染色体显性遗传的周围神经退行性疾病，其中感觉特征比运动受累更为突出。我们描述了一种与咳嗽和胃食管反流相关的新型HSN I。为了确定导致该疾病的基因的染色体定位，我们对一个澳大利亚大家庭进行了10厘摩（cM）的基因组筛查。两点分析显示与3号染色体p22 - p24区域连锁（标记D3S2338在重组率（θ）为0.0时Zmax = 3.51）。另一个具有相似表型的家庭共享不同的疾病单倍型，但在同一基因座处发生分离。扩展单倍型分析已将该区域缩小至一个3.42厘摩的区间，两侧分别为标记D3S2336和D3S1266。
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本文引用的文献
1
Online Mendelian Inheritance in Man 'OMIM'.《人类孟德尔遗传在线》（OMIM）。
Indian J Dermatol Venereol Leprol. 2003 Nov-Dec;69(6):423-4.
2
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3
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.小GTP酶晚期内体蛋白RAB7的突变会导致2B型夏科-马里-图斯病性神经病。
Am J Hum Genet. 2003 Mar;72(3):722-7. doi: 10.1086/367847. Epub 2003 Jan 21.
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Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.编码一种拓扑异构酶I依赖性DNA损伤修复酶的TDP1在伴有轴索性神经病的脊髓小脑共济失调中的突变。
Nat Genet. 2002 Oct;32(2):267-72. doi: 10.1038/ng987. Epub 2002 Sep 16.
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A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.常染色体显性遗传性2型夏科-马里-图斯病（CMT2F）的一个新基因座定位于7号染色体q11 - q21区域。
Eur J Hum Genet. 2001 Aug;9(8):646-50. doi: 10.1038/sj.ejhg.5200686.
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Nat Genet. 2001 Mar;27(3):309-12. doi: 10.1038/85879.
7
SPTLC1 is mutated in hereditary sensory neuropathy, type 1.SPTLC1在1型遗传性感觉神经病中发生突变。
Nat Genet. 2001 Mar;27(3):261-2. doi: 10.1038/85817.
8
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JAMA. 2000 Jul 19;284(3):325-34. doi: 10.1001/jama.284.3.325.
9
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Yeast gene for a Tyr-DNA phosphodiesterase that repairs topoisomerase I complexes.用于修复拓扑异构酶I复合物的酪氨酸-DNA磷酸二酯酶的酵母基因。
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