POROK4

Last updated on: 01.03.2022

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Definition
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POROK4 (POROK4 stands for "Disseminated superficial actinic porokeratosis") is a genetic locus associated with the clinical picture of "Disseminated superficial actinic porokeratosis" (see below Porokeratoses, Porokeratosis 4) .

General information
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Disseminated superficial actinic porokeratosis (DSAP) is a chronic skin disease characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic margin. It develops in adolescents in sun-exposed skin areas and usually follows an autosomal dominant inheritance pattern. The first locus for DSAP was located on chromosome 12q23.2-24.1.

In a Chinese family, genetic linkage analysis was performed with 15 microsatellite markers between D12S1671 and D12S369 on chromosome 12q, followed by a genome-wide scan with 382 microsatellite markers from the autosomes. Genetic linkage analysis with chromosome 12q markers revealed that the gene locus in this family is located in a 6.4 cm region between markers D15S1023 and D15S1030 on chromosome 15q25.1-26.1. This DSAP locus was named DSAP2.

Literature
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  1. Xia K et al (2002) A novel locus (DSAP2) for disseminated superficial actinic porokeratosis maps to chromosome 15q25.1-26.1. Br J Dermatol 147:650-654.

Last updated on: 01.03.2022