Fig. 2.
The Greek Cypriot family illustrating segregation of the β haplotypes and informative recombination events. Both parents are heterozygotes (β+ 33 C → G in I1 and βo39 C → T in I2) and all three offspring, compound heterozygotes for β-thalassemia. β Haplotypes P1 and M1 are associated with the paternal and maternal β-thalassemia alleles, respectively. While individuals II2 and II3 have inherited the P1 and M1 haplotypes intact, individual II1 has inherited P1 and a maternal recombinant chromosome, as identified by the haplotype M1/M2. The site of recombination is located within the 361-bp interval between positions −911 and −550 relative to the β-globin gene cap site.