Search

TNF receptor-associated periodic syndrome (TRAPS) is an autosomal dominant disorder characterized by recurrent attacks of fever and serositis. To date, more than 30 mutations have been reported in TNFRSF1A, the responsible gene. In Caucasian populations, the P46L (c.224C>T) TNFRSF1A sequence variation is considered as a low-penetrance mutation because its allele frequency is similar in patients and controls ( approximately 1%). Whereas the spectrum of TNFRSF1A gene mutations has been well established in Caucasian and several Mediterranean populations, it remains unknown in sub-Saharan African populations. In this study, we found an unexpected high P46L allele frequency ( approximately 10%) in two groups from West Africa - a group of 145 patients with sickle cell anaemia and a group of 349 healthy controls. These data suggest that the P46L variant is rather a polymorphism than a TRAPS causative mutation. We propose that the P46L high frequency in West African populations could be explained by some biological advantage conferred to carriers.

BACKGROUND Detecting and quantifying circulating free DNA in patient serum has become a major challenge. New methods using conventional or automated DNA amplification have been developed. As quantitative real-time PCR (QPCR) remains expensive and requires dedicated automated instrumentation, we questioned whether simple quantification using fluorescent dyes is efficient for determination of free DNA levels in serum. METHODS Serum samples from 180 cancer patients and 58 healthy volunteers were used for DNA quantification according to three methods: (i) using an exonic part of the beta-globin gene as the amplifying target; (ii) amplifying a 105-bp intron 1 part of the housekeeping cyclophilin A gene, both referring to specific standard curves; and (iii) using a PicoGreen DNA quantification kit without amplification. RESULTS The 58 samples from healthy controls showed a reference limit of (95th percentile)