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. Author manuscript; available in PMC: 2009 Apr 1.
Published in final edited form as: Hum Mutat. 2008 Oct;29(10):1181–1193. doi: 10.1002/humu.20767

Figure 1.

Figure 1

A: A schematic representation of the human GH/CSH gene cluster, located at 17q22-24. The χ-sites at the 3′ UTR and downstream regions of the genes may be associated with recombination and gene conversion initiation [Smith, 1988]. B. Polymorphisms identified in GH1, CSHL1, CSH1, GH2 and CSH2 genes. The main transcript of each gene is drawn to an approximate scale, including the 5′upstream and 3′ downstream regions (black lines), 5′ and 3′ UTRs (thin unfilled boxes), exons (thick black boxes) and introns (thick unfilled boxes). The blue (Estonians), red (Han Chinese), and green (Mandenkalu) bars represent the identified SNPs and indels in the three populations. SNPs located in the shared position with paralogus sequence variants (PSVs) are marked with open circles (○) and SNPs co-localizing among the genes with black squares (◆). The SNPs within identified gene conversion acceptor tracts are surrounded with a blue oval.