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X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.

作者信息

Wallis C, Ballo R, Wallis G, Beighton P, Goldblatt J

机构信息

Department of Human Genetics, Medical School, University of Cape Town, South Africa.

出版信息

Genomics. 1988 Nov;3(4):299-301. doi: 10.1016/0888-7543(88)90119-x.

DOI:10.1016/0888-7543(88)90119-x
PMID:3243543
Abstract

Molecular linkage analysis was undertaken on a large Mauritian kindred with X-linked mixed deafness, stapes fixation, and perilymphatic gusher (X-LDSF). DNA probe pDP34 (DXYS1) was tightly linked to the disorder, with a lod score of 6.32 at zero recombination. This observation indicates that the gene for this form of deafness maps to the Xq13-q21.1 region and has important implications for carrier screening and antenatal diagnosis.

摘要

相似文献

1
X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.
Genomics. 1988 Nov;3(4):299-301. doi: 10.1016/0888-7543(88)90119-x.
2
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。
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Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.无脉络膜症与位于XQ13 - 21的限制性片段长度多态性DXYS1相关。
Am J Hum Genet. 1985 May;37(3):473-81.
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X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.伴有镫骨足板先天性固定和外淋巴瘘的X连锁混合性耳聋。
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X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery.X连锁进行性混合性聋伴镫骨手术时外淋巴瘘
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Am J Hum Genet. 1989 Oct;45(4):530-40.

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Nonsyndromic hearing impairment: unparalleled heterogeneity.非综合征性听力损失:无与伦比的异质性。
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