A highly polymorphic locus in human DNA.

TLDR

A non‑gene locus in the human genome has been identified as a restriction fragment length polymorphism site. The polymorphism was detected by hybridizing a 16‑kb single‑copy DNA fragment from a lambda CH4A library to an EcoRI‑digested human DNA Southern blot, and examined in individuals from Mormon pedigrees and unrelated subjects. The locus is highly polymorphic with at least eight alleles, homozygotes in fewer than 25% of individuals, and inheritance follows Mendelian patterns over three generations, suggesting rearrangements rather than base‑pair changes.

Abstract

A locus in the human genome, not associated with any specific gene, has been found to be a site of restriction fragment length polymorphism. The polymorphism was found by hybridizing a 16-kilobase-pair segment of single-copy human DNA, selected from the human genome library cloned in phage lambda CH4A, to a Southern transfer of total human DNA digested with EcoRI. DNAs from a number of individuals from within Mormon pedigrees as well as random individuals have been examined. The locus is highly variable, with at least eight alleles present, homozygotes accounting for less than 25% of the individuals examined. The polymorphism appears to be the result of DNA rearrangements rather than base-pair substitutions or modifications. Examination of the DNA from seven members of a family revealed fragment lengths that are consistent with their inheritance as Mendelian alleles through three generations.