Human bile salt-stimulated lipase has a high frequency of size variation due to a hypervariable region in exon 11

摘要: The apparent molecular mass of human milk bile salt-stimulated lipase (BSSL) varies between mothers. basis for this is unknown, but indirect evidence has suggested the differences to reside in a region repeats located C-terminal part protein. We here report that polymorphism within exon 11 BSSL gene explanation variants found milk. By Southern blot hybridization we analyzed from mothers known have different masses their A was 11, previously shown consist 16 near identical 33 bp each. detected deletions or, one case, an insertion corresponding variation protein respective woman. Furthermore, 56%, out 295 individuals studied, carry or insertions both alleles gene. Hence, hypervariable and current understanding encodes oversimplification needs be revisited. Natural may clinical implications.