Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.
作者信息
Combarros O, Oterino A, Berciano J, Benito A, Fernández-Luna J L
出版信息
J Med Genet. 1998 Nov;35(11):962-3. doi: 10.1136/jmg.35.11.962.
Abstract
摘要
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本文引用的文献
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Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.
Hum Genet. 1997 May;99(5):688-91. doi: 10.1007/s004390050431.
2
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.在欧洲血统的非亲缘患者中检测CMT1A/HNPP重组热点。
J Med Genet. 1997 Jan;34(1):43-9. doi: 10.1136/jmg.34.1.43.
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Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP.CMT1A重复序列分析：定位CMT1A和HNPP中的交叉断点
Hum Mol Genet. 1995 Dec;4(12):2327-34. doi: 10.1093/hmg/4.12.2327.
4
A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.一个与两种遗传性周围神经病相关的重组热点位于一个类水手转座子元件附近。
Nat Genet. 1996 Mar;12(3):288-97. doi: 10.1038/ng0396-288.
5
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques.运用分子遗传学技术对1A型遗传性运动感觉神经病（CMT1A）进行产前诊断。
Prenat Diagn. 1995 Jul;15(7):633-40. doi: 10.1002/pd.1970150708.
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Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.两种常染色体显性神经病变是由17号染色体上一个区域的DNA相互重复/缺失引起的。
Hum Mol Genet. 1994 Feb;3(2):223-8. doi: 10.1093/hmg/3.2.223.
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Prevalence of hereditary motor and sensory neuropathy in Cantabria.坎塔布里亚遗传性运动和感觉神经病的患病率。
Acta Neurol Scand. 1987 Jan;75(1):9-12. doi: 10.1111/j.1600-0404.1987.tb07882.x.
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DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Cell. 1991 Jul 26;66(2):219-32. doi: 10.1016/0092-8674(91)90613-4.
10
Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.12个法裔家族中17号染色体p11.2区域重复与1A型遗传性运动感觉神经病。法国遗传性运动感觉神经病研究小组
J Med Genet. 1992 Nov;29(11):807-12. doi: 10.1136/jmg.29.11.807.
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