title: Properties of a polymorphic DNA segment in the 5' flanking region of the human insulin gene.
abstract: The 5' flanking region of the human insulin gene contains a section of variable as to length and sequence. This polymorphic region begins 363 bp from the 5' end of the gene and extends upstream for a variable distance. The restriction fragment length heterogeneity is generated by variation in the redundancy of a family of 14-15 bp GC-rich oligonucleotides. The most frequent, as well as the consensus, sequence for this family is ACAGGGGTGTGGGG. The DNA sequence heterogeneity is produced by differences in the arrangement of members of this oligonucleotide family within the tandemly repeating array. On the basis of differences in restriction fragment length, 40 of 74 (56%) unrelated individuals we have examined have been designated heterozygous at this site. The properties of this region make it a useful molecular marker for this region of chromosome 11 as well as loci within 10-20 million base pairs.
mesh_terms: D001483:Base Sequence; D002906:Chromosomes, Human, 6-12 and X; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005796:Genes; D006801:Humans; D007328:Insulin / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic
chemical_list: D007328:Insulin; D004247:DNA; D004262:DNA Restriction Enzymes