Journal article

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

M Tredano, DN Cooper, M Stuhrmann, J Christodoulou, NA Chuzhanova, F Roudot-Thoraval, PY Boelle, J Elion, M Jeanpierre, J Feingold, R Couderc, M Bahuau

American Journal of Medical Genetics Part A | WILEY | Published : 2006


The SFTPB gene indel g.1549C > GAA (121ins2) accounts for about 2/3 of the mutant alleles underlying complete surfactant protein B deficiency. It is unclear, however, whether its prevalence is due to recurrent mutation or a founder effect. The underlying mutational mechanism was therefore sought through the analysis of local DNA sequence complexity. A relatively complex two-step process was proposed: the first step involving slipped mispairing mediated by a direct repeat and generating an AGAA micro-insertion, the second step involving hairpin loop resolution resulting in a CA micro-deletion. The possibility of a founder effect was then assessed by typing 8 intragenic SNPs in 17 independent ..

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