科研之友
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摘要
P>Background The condition of multiple syringomas is a common skin problem that begins in early adulthood and is characterized by the appearance of skin-coloured papules around the eyes. Previous reports have demonstrated that some cases of multiple syringomas are inherited in an autosomal dominant manner. Objective To identify the genetic factors involved in the development of multiple syringomas. Methods We recruited seven families including multiple family members with multiple syringomas. Our sample included 24 affected individuals and 11 unaffected individuals. We performed genome-wide single-nucleotide polymorphism screening for linkage analysis. Results Whole-genome screening and subsequent analysis revealed that all of the seven families were linked at a locus on chromosome 16q22. A significant logarithm of the odds score of 4 center dot 51 with theta of 0 center dot 00 confirmed the mapping result. The analysis of critical recombinants defined the locus as a 6 center dot 63 cM interval in which 143 genes could be identified. Conclusions We confirmed that the condition of multiple syringomas is an autosomal dominant disorder, and we determined the genomic location of the responsible gene.
- 出版日期2010-5
- 单位长春大学
