| A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. | |
| | |
MedLine Citation:
|
PMID: 21161278 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant keratinization disorder with genetic heterogeneity characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, there have been three susceptible loci determined for DSAP and one locus for disseminated superficial porokeratosis (DSP), i.e. 12q23.2-24.1, 15q25.1-26.1, 1p31.3-p31.1 and 18p11.3. Moreover, the locus for porokeratosis palmaris plantaris et disseminata (PPPD) was mapped to 12q24.1-24.2, which overlapped with the first DSAP locus. Following the exclusion of these known loci in a four-generation Chinese DSAP family, we performed a genome-wide linkage analysis and identified a new locus on chromosome 16q24.1-24.3. The maximum two-point LOD score of 3.73 was obtained with the marker D16S3074 at a recombination fraction θ of 0.00. Haplotype analysis defined the critical 17.4-cM region for DSAP between D16S3091 and D16S413. This is regarded to be the forth locus for DSAP (DSAP4). ATP2C1 was sequenced as a candidate gene, however, no mutation was found. Further investigation for the genetic basis of DSAP is under way. |
| | |
Authors:
|
Jing Luan; Zhenmin Niu; Jing Zhang; Meredith E Crosby; Zhenghua Zhang; Xun Chu; Zhimin Wang; Wei Huang; Leihong Xiang; Zhizhong Zheng |
Related Documents
:
|
15882408 - Divided genomes: negotiating the cell cycle in prokaryotes with multiple chromosomes. 17178628 - Modulation of chromosome damage localization by dna replication timing. 19560228 - Complex human chromosomal and genomic rearrangements. 11432938 - Dormancy and proliferation in saccharum officinarumxs. spontaneum hybrids which differ ... 20130748 - Identification and molecular characterization of a sex chromosome rearrangement causing... 834198 - Cytogenetic effects of inhaled ozone in man. |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2010-12-14 |
Journal Detail:
|
Title: Human genetics Volume: - ISSN: 1432-1203 ISO Abbreviation: - Publication Date: 2010 Dec |
Date Detail:
|
Created Date: 2010-12-16 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040, Shanghai, China. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Expressed sequence tags from Eimeria brunetti-preliminary analysis and functional annotation.
Next Document: Voluntary Versus Spontaneous Swallowing in Man.