Table 1.

Summary of Pericentromeric-Directed Duplications in Man

SegmentAncestral locusDuplicated lociEst. length (kb)Est. age (mya)
AdrenoleukodystrophyXq282p11, 10p11, 16p11, 22q119.75–7
Creatine transporterXq2816p11*26.55–7
ERY-1/MN7 15q1315q11*, 16p11*∼265–10
KGFlocus15q15/21q21.12q21, 9p11, 9q12, 18p11, 18q11, 21q11?5–10
Glutamyl transpeptidase22q11.222q11*, 18, 19 and 20?∼5
MS29segment6p2516p11*∼151–3
Neurofibromatosis17q11.212q12, 14q11, 15q11, 18p11, 21q11, 22q111–4.61–25
Variable IG heavy14q32.315q11 and 16p11?<5
Variable IG κ2p111q12, 9p11, 9q11, 22q1110–305–15
Variable IG λ22q118q11??
von Willebrand factor12p1222q11∼30∼5

[i] (*) Multiple copies of the segment are present within this region. (KGF) Keratinocyte growth factor gene; (ERY-1) END repeat family of transcripts; (IG) immunoglobulin gene segment. Estimated age (in mya) is based on divergence from ancestral sequence (this value may change as more copies of each duplicated segment are identified). Sequence divergences range from 10% to <1%. In many cases, the precise size of the duplication is undetermined.