Minimum-Recombinant Haplotyping in Pedigrees

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Minimum-Recombinant Haplotyping in Pedigrees Dajun Qian, Lars Beckmann The American Journal of Human Genetics Volume 70, Issue 6, Pages 1434-1445 (June 2002) DOI: 10.1086/340610 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 Step-by-step haplotyping results in a three-generation pedigree with five genotyped individuals and one completely ungenotyped individual. A, Genotype data. B, Results after application of rule 1. C, Results after application of rule 2. D, Results after application of rule 3. E, Results after application of rule 4. F, Results after application of rule 5. G, Results after second application of rules 2 and 3. H, One MRHC with zero recombinants found after application of rule 6 and reapplication of rule 3. This is the only MRHC in the space Hmin=H0. Haplotypes are displayed as paternal on the left and maternal on the right. The American Journal of Human Genetics 2002 70, 1434-1445DOI: (10.1086/340610) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 2 Four MRHCs, A–D, in the space Hmin=H5 reconstructed from the pedigree with EA with 27 genotyped individuals and 2 ungenotyped individuals (i.e., individuals 2001 and 1011) (Litt et al. 1994). One nuclear family (i.e., individuals 1007, 1006, 113, and 114, shown by bold symbols) has four distinct haplotype configurations, A–D, and all the other family members belong to a single haplotype configuration. Paternal haplotypes are given on the left, and maternal haplotypes are given on the right. A single arrow indicates a recombination event between two loci. A double arrow originating from a locus indicates a recombinant at either of the two marker intervals but not both. The American Journal of Human Genetics 2002 70, 1434-1445DOI: (10.1086/340610) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 3 A looped marriage structure in a pedigree with ataxia telangiectasia that is composed of 17 individuals (Lange and Matthysse 1989). The American Journal of Human Genetics 2002 70, 1434-1445DOI: (10.1086/340610) Copyright © 2002 The American Society of Human Genetics Terms and Conditions