Complete MHC Haplotype Sequencing for Common Disease Gene Mapping

Table 1.

Variations Between the PGF and COX MHC Haplotypes


Context

SNPs

Indels

Total

bp

kb-1
Codinga,b 341 8 349 247,604 1.41
Exonic UTR 308 26 334 128,976 2.59
Intronic 2552 472 3024 1,052,077 2.87
Pseudogenic 460 33 493 107,079 4.60
Microsatellitec 262 230 492 28,788 17.09
Interspersed repeatsd 3616 719 4335 1,092,788 3.97
Other intergenic 8474 913 9387 2,097,517 4.48
Total 16,013 2401 18,414 4,754,829 3.87
kb-1 3.37 0.51
Transversions 5189
Transitions
10,824




  • Variations are classified according to type and position.

  • a Coding variations were in 320 codons as follows: 297 with one SNP; 21 with two SNPs; two with three SNPs. Codon changes due to these variations are shown in Table 2.

  • b Indels within coding regions did not disrupt the reading frame at the end of the exon containing them: either by being multiples of 3 nt, or by pairing with another indel that had an opposite effect on the reading frame.

  • c Microsatellites were annotated by the Tandem Repeats Finder (Benson 1999) as ≥7 copies of a ≥2-mer.

  • d Interspersed repeats were annotated by RepeatMasker as LINEs or SINEs.

This Article

  1. Genome Res. 14: 1176-1187

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