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 polymorphism can be easily assayed by polymerase chain reaction (PCR) to detect linkage of inherited disorder. Five alleles were observed in 86 unrelated individuals due to 3-8 direct perfect repeats of 59 bp. This repeat has the particularity to begin at the end of the preceding exon. Southern blot experiments revealed the locus specificity of the repeat. The sequence of the repeat unit does not match the consensus sequence of Chi-related minisatellites.
Desseyn
J L
JL
Unité 377 INSERM, Lille, France.
Rousseau
K
K
Laine
A
A
D001483:Base Sequence; D018076:DNA, Complementary; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D055257:Mucin-5B; D009077:Mucins / Q000235:genetics*; D011110:Polymorphism, Genetic; D020080:Tandem Repeat Sequences
D018076:DNA, Complementary; C524578:MUC5B protein, human; D055257:Mucin-5B; D009077:Mucins