ClinGen Dosage Sensitivity Curation Page

1 copy: 2q telomere|3 copies: 2q telomere

  • Curation Status: Complete


Location Information

Select assembly: (NC_000002.11) ()
  • Haploinsufficiency score: Haploinsufficiency unlikely
  • Strength of Evidence (disclaimer): Haploinsufficiency unlikely

Haploinsufficiency phenotype comments:

Macina et al (1994) characterized the sequence of the 2q telomere by cloning the terminal 240 kb in two overlapping yeast artificial-chromosomes (YACs). The 2q telomere contains a region of low copy subtelomeric repeats within the distal region 50 kb to the telomere, a segment of DNA duplicated on distal 8p23 100 kb from the telomere and a region of single copy DNA 230 kb from the 2q telomere. RecA-assisted restriction endonuclease (RARE) site-specific cleavage was utilized to show a potential 55 kb larger sized polymorphism in one of eleven individuals studied.

  • Triplosensitivity score: Triplosensitivity unlikely
  • Strength of Evidence (disclaimer): Triplosensitivity unlikely

Triplosensitivity phenotype comment:

Macina et al (1994) characterized the sequence of the 2q telomere by cloning the terminal 240 kb in two overlapping yeast artificial-chromosomes (YACs). The 2q telomere contains a region of low copy subtelomeric repeats within the distal region 50 kb to the telomere, a segment of DNA duplicated on distal 8p23 100 kb from the telomere and a region of single copy DNA 230 kb from the 2q telomere. RecA-assisted restriction endonuclease (RARE) site-specific cleavage was utilized to show a potential 55 kb larger sized polymorphism in one of eleven individuals studied.