Systematic evaluation of map quality: human chromosome 22

Am J Hum Genet. 2002 Jun;70(6):1398-410. doi: 10.1086/340605. Epub 2002 Apr 19.


Marker positions on nine genetic linkage, radiation hybrid, and integrated maps of human chromosome 22 were compared with their corresponding positions in the completed DNA sequence. The proportion of markers whose map position is <250 kb from their respective sequence positions ranges from 100% to 35%. Several discordant markers were identified, as well as four regions that show common inconsistencies across multiple maps. These shared discordant regions surround duplicated DNA segments and may indicate mapping or assembly errors due to sequence homology. Recombination-rate distributions along the chromosome were also evaluated, with male and female meioses showing significantly different patterns of recombination, including an 8-Mb male recombination desert. The distributions of radiation-induced chromosome breakage for the GB4 and the G3 radiation hybrid panels were also evaluated. Both panels show fluctuations in breakage intensity, with different regions of significantly elevated rates of breakage. These results provide support for the common assumption that radiation-induced breaks are generally randomly distributed. The present studies detail the limitations of these important map resources and should prove useful for clarifying potential problems in the human maps and sequence assemblies, as well as for mapping and sequencing projects in and across other species.

Publication types

  • Comparative Study
  • Evaluation Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Breakage / genetics
  • Chromosome Mapping / standards
  • Chromosomes, Human, Pair 22 / genetics*
  • Female
  • Gene Order / genetics
  • Genetic Markers / genetics
  • Humans
  • Linkage Disequilibrium / genetics
  • Male
  • Physical Chromosome Mapping / standards*
  • Radiation Hybrid Mapping / standards
  • Recombination, Genetic / genetics


  • Genetic Markers