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Short communication. Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129

Short communication. Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129
Short communication. Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129
Darier disease is a dominantly inherited skin disorder in which there appears to be abnormal adhesion between keratinocytes. We and others have shown that the disease in some British pedigrees is closely linked to markers mapping to 12q23-q24.1. In the present study we have defined crossovers that enable us to narrow the location of the disease gene to the interval between the D12S105 and the D12S129 markers. This interval may be expected to be on the order of about 4 cM on the basis of linkage data obtained using the primary CEPH reference families. Our data provide further evidence for locus homogeneity: each of four large British pedigrees, two of which have previously been subjected to preliminary characterization, shows statistically significant evidence for linkage to markers mapping to 12q23-q24.1.
0888-7543
378-382
Carter, Simon A.
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Bryce, Steven D.
11c28535-1061-4eda-9f92-1b0f429e4b01
Munro, Colin S.
892b357f-6815-458e-9dc0-b9ab0a2bbcc0
Healy, Eugene
400fc04d-f81a-474a-ae25-7ff894be0ebd
Bashir, Rumaisa
dfe1bb63-02d0-41be-abf4-3c84d880f84a
Weissenbach, Jean
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Leblanc-Straceski, Janine
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Kucherlapati, Raju
2c167038-959a-43ea-9d9e-1afc171605fc
Stevenson, Anthea
a40de470-0f98-40eb-b7ad-0b3be318b6a1
Rees, Jonathan L.
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Strachan, Tom
9ab590c0-9f84-43f4-8bf3-0946c7925594
Carter, Simon A.
a0a9b34f-4bd6-4dd1-b671-d00691c03b16
Bryce, Steven D.
11c28535-1061-4eda-9f92-1b0f429e4b01
Munro, Colin S.
892b357f-6815-458e-9dc0-b9ab0a2bbcc0
Healy, Eugene
400fc04d-f81a-474a-ae25-7ff894be0ebd
Bashir, Rumaisa
dfe1bb63-02d0-41be-abf4-3c84d880f84a
Weissenbach, Jean
c2370ce0-cc3d-4632-b7a7-d263636f8f29
Leblanc-Straceski, Janine
7f5b12a0-d7fe-4caf-a3aa-509a47a471f0
Kucherlapati, Raju
2c167038-959a-43ea-9d9e-1afc171605fc
Stevenson, Anthea
a40de470-0f98-40eb-b7ad-0b3be318b6a1
Rees, Jonathan L.
8a58a967-d239-4300-b363-ca471bf7047f
Strachan, Tom
9ab590c0-9f84-43f4-8bf3-0946c7925594

Carter, Simon A., Bryce, Steven D., Munro, Colin S., Healy, Eugene, Bashir, Rumaisa, Weissenbach, Jean, Leblanc-Straceski, Janine, Kucherlapati, Raju, Stevenson, Anthea, Rees, Jonathan L. and Strachan, Tom (1994) Short communication. Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129. Genomics, 24 (2), 378-382. (doi:10.1006/geno.1994.1632). (PMID:7698764)

Record type: Article

Abstract

Darier disease is a dominantly inherited skin disorder in which there appears to be abnormal adhesion between keratinocytes. We and others have shown that the disease in some British pedigrees is closely linked to markers mapping to 12q23-q24.1. In the present study we have defined crossovers that enable us to narrow the location of the disease gene to the interval between the D12S105 and the D12S129 markers. This interval may be expected to be on the order of about 4 cM on the basis of linkage data obtained using the primary CEPH reference families. Our data provide further evidence for locus homogeneity: each of four large British pedigrees, two of which have previously been subjected to preliminary characterization, shows statistically significant evidence for linkage to markers mapping to 12q23-q24.1.

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Published date: 15 November 1994
Organisations: Clinical & Experimental Sciences

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Local EPrints ID: 334148
URI: https://eprints.soton.ac.uk/id/eprint/334148
ISSN: 0888-7543
PURE UUID: 40f0abfe-6dd3-4c4d-8569-42cf78678582

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Date deposited: 16 Mar 2012 09:44
Last modified: 18 Jul 2017 06:12

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Contributors

Author: Simon A. Carter
Author: Steven D. Bryce
Author: Colin S. Munro
Author: Eugene Healy
Author: Rumaisa Bashir
Author: Jean Weissenbach
Author: Janine Leblanc-Straceski
Author: Raju Kucherlapati
Author: Anthea Stevenson
Author: Jonathan L. Rees
Author: Tom Strachan

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