Fifty-nine bp repeat polymorphism in the uncommon intron 36 of the human mucin gene MUC5B

A variable number of tandem repeat (VNTR) polymorphism within the intron 36 of the human mucin gene MUC5B, which is mapped to chromosome 11 band p15.5 , have been identified using Southern blotting experiments. This polymorphi sm can be easily assayed by polymerase chain reaction (PCR) to detect linka ge of inherited disorder. Five alleles were observed in 86 unrelated indivi duals due to 3-8 direct perfect repeats of 59 bp. This repeat has the parti cularity to begin at the end of the preceding exon. Southern blot experimen ts revealed the locus specificity of the repeat. The sequence of the repeat unit does not match the consensus sequence of Chi-related minisatellites.