Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1

L. Q. Wu; Y. F. Yang; D. Zheng; H. Deng; Q. Pan; T. L. Zhao; F. Cai; Y. Feng; Z. G. Long; H. P. Dai; B. S. Tang; Y. J. Yang; H. X. Deng; K. Xia; J. H. Xia

doi:10.1111/j.1365-2133.2004.05912.x

Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1

L. Q. Wu, Y. F. Yang, D. Zheng, H. Deng, Q. Pan, T. L. Zhao, F. Cai, Y. Feng, Z. G. Long, H. P. Dai, B. S. Tang, Y. J. Yang, H. X. Deng, K. Xia^*, J. H. Xia

^*Corresponding author for this work

Neurology

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Abstract

Background: Our previous study has identified two loci for disseminated superficial actinic porokeratosis (DSAP), but the genes responsible are still unknown. Objectives: To narrow down the candidate regions and to assess candidate genes. Methods: A genome-wide scan and linkage analysis were carried out in a newly collected five-generation Chinese family with DSAP. In addition, six candidate genes were screened for possible DSAP-associated mutations. Results: DSAP in this family was associated with chromosome 12q. Fine mapping and haplotype construction refined the DSAP1 locus to a 4.4-cM interval. No disease-associated mutation was detected in CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 or KIAA0789 genes. Conclusions: The DSAP1 locus was localized to a 4.4-cM interval at chromosome 12q23.2-24.1. CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 and KIAA0789 genes were not associated with DSAP1.

Original language	English (US)
Pages (from-to)	999-1004
Number of pages	6
Journal	British Journal of Dermatology
Volume	150
Issue number	5
DOIs	https://doi.org/10.1111/j.1365-2133.2004.05912.x
State	Published - May 2004

Keywords

DSAP1
Disseminated superficial actinic porokeratosis
Gene mapping
Genome-wide scan
Linkage analysis
Refined mapping

ASJC Scopus subject areas

Dermatology

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10.1111/j.1365-2133.2004.05912.x

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Wu, L. Q., Yang, Y. F., Zheng, D., Deng, H., Pan, Q., Zhao, T. L., Cai, F., Feng, Y., Long, Z. G., Dai, H. P., Tang, B. S., Yang, Y. J., Deng, H. X., Xia, K., & Xia, J. H. (2004). Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1. British Journal of Dermatology, 150(5), 999-1004. https://doi.org/10.1111/j.1365-2133.2004.05912.x

@article{2ad9bafd31384fe3ae6fbb321c6f89c7,

title = "Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1",

abstract = "Background: Our previous study has identified two loci for disseminated superficial actinic porokeratosis (DSAP), but the genes responsible are still unknown. Objectives: To narrow down the candidate regions and to assess candidate genes. Methods: A genome-wide scan and linkage analysis were carried out in a newly collected five-generation Chinese family with DSAP. In addition, six candidate genes were screened for possible DSAP-associated mutations. Results: DSAP in this family was associated with chromosome 12q. Fine mapping and haplotype construction refined the DSAP1 locus to a 4.4-cM interval. No disease-associated mutation was detected in CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 or KIAA0789 genes. Conclusions: The DSAP1 locus was localized to a 4.4-cM interval at chromosome 12q23.2-24.1. CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 and KIAA0789 genes were not associated with DSAP1.",

keywords = "DSAP1, Disseminated superficial actinic porokeratosis, Gene mapping, Genome-wide scan, Linkage analysis, Refined mapping",

author = "Wu, {L. Q.} and Yang, {Y. F.} and D. Zheng and H. Deng and Q. Pan and Zhao, {T. L.} and F. Cai and Y. Feng and Long, {Z. G.} and Dai, {H. P.} and Tang, {B. S.} and Yang, {Y. J.} and Deng, {H. X.} and K. Xia and Xia, {J. H.}",

year = "2004",

month = may,

doi = "10.1111/j.1365-2133.2004.05912.x",

language = "English (US)",

volume = "150",

pages = "999--1004",

journal = "British Journal of Dermatology",

issn = "0007-0963",

publisher = "Wiley-Blackwell",

number = "5",

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Wu, LQ, Yang, YF, Zheng, D, Deng, H, Pan, Q, Zhao, TL, Cai, F, Feng, Y, Long, ZG, Dai, HP, Tang, BS, Yang, YJ, Deng, HX, Xia, K & Xia, JH 2004, 'Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1', British Journal of Dermatology, vol. 150, no. 5, pp. 999-1004. https://doi.org/10.1111/j.1365-2133.2004.05912.x

TY - JOUR

T1 - Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1

AU - Wu, L. Q.

AU - Yang, Y. F.

AU - Zheng, D.

AU - Deng, H.

AU - Pan, Q.

AU - Zhao, T. L.

AU - Cai, F.

AU - Feng, Y.

AU - Long, Z. G.

AU - Dai, H. P.

AU - Tang, B. S.

AU - Yang, Y. J.

AU - Deng, H. X.

AU - Xia, K.

AU - Xia, J. H.

PY - 2004/5

Y1 - 2004/5

N2 - Background: Our previous study has identified two loci for disseminated superficial actinic porokeratosis (DSAP), but the genes responsible are still unknown. Objectives: To narrow down the candidate regions and to assess candidate genes. Methods: A genome-wide scan and linkage analysis were carried out in a newly collected five-generation Chinese family with DSAP. In addition, six candidate genes were screened for possible DSAP-associated mutations. Results: DSAP in this family was associated with chromosome 12q. Fine mapping and haplotype construction refined the DSAP1 locus to a 4.4-cM interval. No disease-associated mutation was detected in CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 or KIAA0789 genes. Conclusions: The DSAP1 locus was localized to a 4.4-cM interval at chromosome 12q23.2-24.1. CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 and KIAA0789 genes were not associated with DSAP1.

AB - Background: Our previous study has identified two loci for disseminated superficial actinic porokeratosis (DSAP), but the genes responsible are still unknown. Objectives: To narrow down the candidate regions and to assess candidate genes. Methods: A genome-wide scan and linkage analysis were carried out in a newly collected five-generation Chinese family with DSAP. In addition, six candidate genes were screened for possible DSAP-associated mutations. Results: DSAP in this family was associated with chromosome 12q. Fine mapping and haplotype construction refined the DSAP1 locus to a 4.4-cM interval. No disease-associated mutation was detected in CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 or KIAA0789 genes. Conclusions: The DSAP1 locus was localized to a 4.4-cM interval at chromosome 12q23.2-24.1. CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 and KIAA0789 genes were not associated with DSAP1.

KW - DSAP1

KW - Disseminated superficial actinic porokeratosis

KW - Gene mapping

KW - Genome-wide scan

KW - Linkage analysis

KW - Refined mapping

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AN - SCOPUS:3042700201

SN - 0007-0963

VL - 150

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JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 5

ER -

Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1

Abstract

Keywords

ASJC Scopus subject areas

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