Haplotype background, repeat length evolution, and Huntington's disease.
作者信息
Falush Daniel
出版信息
Am J Hum Genet. 2009 Dec;85(6):939-42. doi: 10.1016/j.ajhg.2009.11.002.
Abstract
摘要
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本文引用的文献
1
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.亨廷顿舞蹈症基因中的CAG重复序列扩展与一个特定且可靶向的易感单倍群相关。
Am J Hum Genet. 2009 Mar;84(3):351-66. doi: 10.1016/j.ajhg.2009.02.003. Epub 2009 Feb 26.
2
CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.CTCF以表观遗传方式顺式调控三核苷酸重复序列的不稳定性：突变热点确定的新基础。
PLoS Genet. 2008 Nov;4(11):e1000257. doi: 10.1371/journal.pgen.1000257. Epub 2008 Nov 14.
3
Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation.委内瑞拉的亨廷顿病突变：发病年龄、单倍型分析及地理聚集情况
J Hum Genet. 2008;53(2):127-135. doi: 10.1007/s10038-007-0227-1. Epub 2007 Dec 22.
4
Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.突变率的测量表明，亨廷顿舞蹈症不仅具有较高的新发突变率，而且迟发性病例的确诊率严重不足。
Am J Hum Genet. 2001 Feb;68(2):373-85. doi: 10.1086/318193.
5
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.
Nat Genet. 1994 Aug;7(4):525-30. doi: 10.1038/ng0894-525.
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