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A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome

A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome
A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome
Linkage analysis has been carried out in a family with severe congenital sensorineural deafness with a structural abnormality of the inner ear. Recombinations show the gene responsible for deafness in this family to lie between the loci DXS255 (Xp11.22) and DXS94 (Xq22). Close linkage was found to locus DXS159 (cpX289) in Xq12, with a LOD score of 3.155 and 0 recombination. This location is consistent with other linkage studies of X-linked deafness
0340-6717
316-318
Robinson, David
dcef4b3b-ac9b-4c1b-b8b2-1bee4b81a8cc
Lamont, Margaret
5cb70848-d84b-4c62-b5db-dac0bdb2bb10
Curtis, Greta
33796334-4456-44c6-a2e4-6509549cbc98
Shields, Denis C.
57ffee4f-0277-4b3d-9c7a-8c328637d8e6
Phelps, Peter
5920a435-e1df-4655-ad42-ebc8a764512a
Robinson, David
dcef4b3b-ac9b-4c1b-b8b2-1bee4b81a8cc
Lamont, Margaret
5cb70848-d84b-4c62-b5db-dac0bdb2bb10
Curtis, Greta
33796334-4456-44c6-a2e4-6509549cbc98
Shields, Denis C.
57ffee4f-0277-4b3d-9c7a-8c328637d8e6
Phelps, Peter
5920a435-e1df-4655-ad42-ebc8a764512a

Robinson, David, Lamont, Margaret, Curtis, Greta, Shields, Denis C. and Phelps, Peter (1992) A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome. Human Genetics, 90 (3), 316-318. (doi:10.1007/BF00220090).

Record type: Article

Abstract

Linkage analysis has been carried out in a family with severe congenital sensorineural deafness with a structural abnormality of the inner ear. Recombinations show the gene responsible for deafness in this family to lie between the loci DXS255 (Xp11.22) and DXS94 (Xq22). Close linkage was found to locus DXS159 (cpX289) in Xq12, with a LOD score of 3.155 and 0 recombination. This location is consistent with other linkage studies of X-linked deafness

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Published date: November 1992
Organisations: Faculty of Medicine, Faculty of Health Sciences

Identifiers

Local EPrints ID: 366297
URI: https://eprints.soton.ac.uk/id/eprint/366297
ISSN: 0340-6717
PURE UUID: b9bcb3b4-3be8-42e9-8c37-c08da7def709

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Date deposited: 07 Jul 2014 08:49
Last modified: 18 Jul 2017 02:14

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Contributors

Author: David Robinson
Author: Margaret Lamont
Author: Greta Curtis
Author: Denis C. Shields
Author: Peter Phelps

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