Related Experiment Video
Updated: May 13, 2026

Application of DNA Fingerprinting using the D1S80 Locus in Lab Classes
Published on: July 17, 2021
Genomic evolution and polymorphism: segmental duplications and haplotypes at 108 regions on 21 chromosomes
Craig A McLure1, Peter Hinchliffe, Susan Lester
1C.Y. O'Connor ERADE Village, PO Box 5100, Canning Vale, Western Australia 6155, Australia.
Abstract:
We describe here extensive, previously unknown, genomic polymorphism in 120 regions, covering 19 autosomes and both sex chromosomes. Each contains duplication within multigene clusters. Of these, 108 are extremely polymorphic with multiple haplotypes. We used the genomic matching technique (GMT), previously used to characterise the major histocompatibility complex (MHC) and regulators of complement activation (RCA). This genome-wide extension of this technique enables the examination of many underlying cis, trans and epistatic interactions responsible for phenotypic differences especially in relation to individuality, evolution and disease susceptibility. The extent of the diversity could not have been predicted and suggests a new model of primate evolution based on conservation of polymorphism rather than de novo mutation.
Related Concept Videos
Gene Duplication and Divergence
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Single Nucleotide Polymorphisms-SNPs
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Gene Evolution - Fast or Slow?
In contrast, regions which code...
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Evolutionary Relationships through Genome Comparisons

