Fig. 2

a Constructed maternal haplotype inheritance in an autosomal dominant disorder family in which the mother and child (daughter) were affected with polycystic kidney disease. The inherited paternal haplotype is not shown. The horizontal line indicates the mutation position in the PKD1 gene on the chromosome. Yellow and blue represent maternal haplotype blocks that are in and not in the affected child’s genome, respectively. The E1, E2, E5, and E7 embryos had the mutation as determined by the inheritance of the same haplotype block as that identified in the affected child at the PKD1 gene location. The E3, E4, and E6 embryos were free of the mutation because they inherited a different haplotype block than was found in the affected child at the PKD1 gene location. A recombination was identified in the PKD1 gene in E8. b Constructed haplotypes (paternal and maternal) of a family with an autosomal recessive disorder in which the father and mother were unaffected carriers, but a child (son) was affected with mucopolysaccharidosis. The horizontal line indicates the mutation position of the GALNS gene on the chromosome. Red and green represent paternal haplotype blocks in and not in affected child genome, respectively. Yellow and blue represent maternal haplotype blocks in and not in the affected child’s genome, respectively. The results show that embryos E1 and E3 had only the paternal mutations, and embryos E2 and E4 had only the maternal mutations. All embryos were therefore unaffected carriers