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Sequence variant common in population from subSaharan Africa (Yoruba, Nigeria)

Figure 1.14 The dbSNP repository and the Hb S DNA sequence variant. In 1988 the National Centre for Biotechnology Information (NCBI) was set up by the National Institutes of Health to generate information systems for use in molecular biology (www.ncbi.nlm. nih.gov/) (Wheeler et al. 2008b) Among the many database resources now available, dbSNP is a repository of single nucleotide substitutions and short deletions and insertions containing over 12 million human SNPs (www.ncbi.nlm.nih.gov/SNP) (Sherry et al. 1999, 2001; Wheeler et al. 2008b). Some of the data available for rs334 is shown as an illustration using screenshots from dbSNP (www. ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs334). A number of the genome project sequence resources are indicated allowing the nucleotide substitution to be resolved in a particular contig, mRNA, or amino acid sequence. Validation status together with population-specific allele frequencies can be determined. Data from the International HapMap Project (www.hapmap.org) is shown for various population groups, highlighting how the Hb S sequence variant is common in a sub-Saharan population from Nigeria.

Sickle cell anaemia phenotype http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603903

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