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Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

作者信息

Dahl N, Laporte J, Hu L, Biancalana V, Le Palier D, Cohen D, Piussan C, Mandel J L

出版信息

Am J Hum Genet. 1995 Apr;56(4):999-1002.

PMID:7717411
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1801217/
Abstract
摘要

相似文献

1
Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.X连锁混合性耳聋（DFN3）的缺失图谱确定了DXS26着丝粒方向上一个265 - 525 kb的区域。
Am J Hum Genet. 1995 Apr;56(4):999-1002.
2
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).与井喷相关的X连锁混合性耳聋（DFN3）患者的微缺失。
Am J Hum Genet. 1992 Jul;51(1):38-44.
3
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.在X连锁3型耳聋（DFN3）患者中，于DFN3基因POU3F4近端900 kb处鉴定出一个微缺失热点。
Hum Mol Genet. 1996 Sep;5(9):1229-35. doi: 10.1093/hmg/5.9.1229.
4
Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.对位于Xq21的X连锁耳聋和非Fra(X) - X连锁智力迟钝相关基因的物理精细定位。
Hum Genet. 1992 Aug;89(6):620-4. doi: 10.1007/BF00221950.
5
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.伴有镫骨固定的脉络膜视网膜萎缩症和耳聋：一种Xq21区域的相邻基因缺失综合征
Am J Hum Genet. 1989 Oct;45(4):530-40.
6
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.X连锁混合性耳聋与POU结构域基因POU3F4突变之间的关联。
Science. 1995 Feb 3;267(5198):685-8. doi: 10.1126/science.7839145.
7
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.与镫骨手术中出现外淋巴瘘的X连锁进行性混合性耳聋（DFN3）相关的基因与磷酸甘油酸激酶基因（PGK）有关。
Hum Genet. 1988 Dec;80(4):337-40. doi: 10.1007/BF00273647.
8
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.X连锁混合性耳聋（DFN3）：关键区域的克隆与特征分析有助于发现新的微缺失。
Hum Mol Genet. 1994 Jul;3(7):1151-4. doi: 10.1093/hmg/3.7.1151.
9
Mapping and cloning hereditary deafness genes.
Curr Opin Genet Dev. 1995 Jun;5(3):371-5. doi: 10.1016/0959-437x(95)80053-0.
10
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.由涉及OA1和一个含有WD-40重复序列的新基因的缺失引起的X连锁迟发性感音神经性耳聋。
Am J Hum Genet. 1999 Jun;64(6):1604-16. doi: 10.1086/302408.

引用本文的文献

1
Refinement of the locus for non-syndromic sensorineural deafness (DFN2).非综合征性感音神经性耳聋（DFN2）基因座的优化
J Genet. 2004 Apr;83(1):35-8. doi: 10.1007/BF02715827.
2
Characterisation and genetic mapping of a new X linked deafness syndrome.一种新的X连锁遗传性耳聋综合征的特征分析与基因定位
J Med Genet. 2000 Nov;37(11):836-41. doi: 10.1136/jmg.37.11.836.

本文引用的文献

1
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.X连锁混合性耳聋（DFN3）：关键区域的克隆与特征分析有助于发现新的微缺失。
Hum Mol Genet. 1994 Jul;3(7):1151-4. doi: 10.1093/hmg/3.7.1151.
2
Choroideremia, obesity, and congenital deafness.视网膜色素变性、肥胖症和先天性耳聋。
Am J Ophthalmol. 1981 Jul;92(1):63-9. doi: 10.1016/s0002-9394(14)75909-4.
3
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.从一名患有脉络膜视网膜炎、耳聋和智力迟钝患者的亚显微X染色体缺失区域内分离匿名DNA序列。
Proc Natl Acad Sci U S A. 1987 Sep;84(18):6521-5. doi: 10.1073/pnas.84.18.6521.
4
Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.一个患有X染色体缺失的家族中的脉络膜缺损、先天性耳聋和智力发育迟缓。
Ophthalmic Paediatr Genet. 1987 Nov;8(3):139-43. doi: 10.3109/13816818709031459.
5
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.利用与复杂综合征相关的Xq21缺失对脉络膜视网膜病变基因座进行物理精细定位。
Genomics. 1989 Jan;4(1):41-6. doi: 10.1016/0888-7543(89)90312-1.
6
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.与镫骨手术中出现外淋巴瘘的X连锁进行性混合性耳聋（DFN3）相关的基因与磷酸甘油酸激酶基因（PGK）有关。
Hum Genet. 1988 Dec;80(4):337-40. doi: 10.1007/BF00273647.
7
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.伴有镫骨固定的脉络膜视网膜萎缩症和耳聋：一种Xq21区域的相邻基因缺失综合征
Am J Hum Genet. 1989 Oct;45(4):530-40.
8
Sex linked deafness: Wilde revisited.性连锁性耳聋：重温王尔德
J Med Genet. 1990 Jun;27(6):376-9. doi: 10.1136/jmg.27.6.376.
9
Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents.包含七个单倍体人类基因组当量的酵母人工染色体文库的构建与表征。
Proc Natl Acad Sci U S A. 1990 Jun;87(11):4256-60. doi: 10.1073/pnas.87.11.4256.
10
DXS26 (HU16) is located in Xq21.1.DXS26（HU16）位于Xq21.1。
Hum Genet. 1990 Jun;85(1):117-20. doi: 10.1007/BF00276335.