SCN9A Mutation Detection And Rule Out The Known Virulence Gene Loc Of A Primary Erythromelalgia Family

Backgrounds: Primary erythromelalgia (PETA) is a rare disease act as autosomal dominant inheritance, characteristic mainly for the burning sensation of different levels of the end of limbs with the end of limb skin redness, often induced by the movement or temperature changes. Symptoms relief when expose to a low temperature environment such as cool water. The pathogenic mechanism is unclear, and there is no effective cure it by now. PETA bring serious physical and mental harm to patients and their family members. Some studies have mapped its virulence gene to 2q24.1～24.3, and found SCN9A is the virulence gene. The pathogenic mechanisms of SCN9A mutation is under studying. But in some PETA family, SCN9A mutation was not detected, suggesting genetic heterogeneity of PETA. Then searching for a new virulence gene become a research hot.Obectives: To identify whether the PETA family of HUNAN has new disease gene and whether the gene loci is in 2q24.1～24.3.Methods and results: We investigated the PETA family of HUNAN CHINA, gathered enough information for linkage analysis, in order to get a meaningful LOD score.We sequenced all 26 exons of SCN9A gene of the proband by obverse and reverse trend, and didn't find meaningful mutation, then selected 6 microsatellite markers (STR) in 2q24.1～24.3 and did linkage analysis in some of the family members, fond out that no linkage exists between PETA and D2S1353～D2S1776, ruled out the virulence gene locate in this range.Conclusion: There is no SCN9A gene mutation in HUNAN PETA family, indicating new pathogenic gene. The new pathogenic gene loci is not in D2S1353～D2S1776.