Figure 1.
Pedigree and haplotype analysis of 10 families with the IAHSP phenotype. Individuals from 10 families were genotyped with 15 markers of the 2q33-34 region, including the markers of the ALS2 critical region (D2S116, D2S2309, D2S2214, D2S346, D2S2289, D2S72, D2S307, D2S2189, and D2S2237). Haplotypes were generated under the assumption that the smallest number of recombination events was present. Haplotype analysis defined the boundary of the IAHSP locus within the ALS2 critical region, between markers D2S116 and D2S2237. For ALS2, a plus sign (+) denotes the mutated allele and a minus sign (−) the nonmutated allele. Asterisks (*) denote families with an ALS2 mutation.