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Normal DNA sequence variations in humans

Part 2. Genomics

2.6. SNPs/Haplotypes

Introductory Review

  1. Kenneth K. Kidd

Published Online: 15 JUL 2005

DOI: 10.1002/047001153X.g206101

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Kidd, K. K. 2005. Normal DNA sequence variations in humans. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 2:2.6:68.

Author Information

  1. Yale University, New Haven, CT, USA

Publication History

  1. Published Online: 15 JUL 2005

Abstract

Within the past quarter century, researchers have been able to study variation directly in the human DNA sequence. Though almost all of the human DNA sequence is identical in all humans, the small fraction, less than 1%, that does vary is more than sufficient to make each independently conceived human genetically unique. Many types of normal variation exist, from differences in a single nucleotide to the presence or absence of blocks of DNA hundreds of nucleotides long. The distributions among populations of the variant forms can differ but overall, they are consistent with a pattern of human expansion from an origin in Africa to occupation of all major continents.

Keywords:

  • polymorphism;
  • DNA;
  • human;
  • SNP;
  • STRP;
  • haplotype;
  • population;
  • linkage disequilibrium