Fig. 3

Exemplified PGD of F8 defects for two hemophilia A families: family 1 (c.1538-1G > A mutation) and family 2 (INV22). PGD was performed using ARMS-qPCR, together with linkage analysis for five informative short tandem repeat (STR) markers ordered from centromere (top) to telomere (bottom). The numbers in STR markers represent the sizes of PCR amplicons in base pair (bp). In family 1, human leukocyte antigen (HLA) typing with 12 STR markers was also performed. PGD for hemophilia A resulted in a birth of healthy girl (1–4), who was HLA matched to the affected sibling (1–3). In family 2, PGD for INV22 was directly performed by linkage analysis. The maternal allele linked to INV22 was evidenced by comparing the STR profile with that of case 2–3 and 2–4. In the pedigree, squares represent males, and circles represent females. Line through, filled, dotted and open the symbols represent deceased, affected, carrier and unaffected individuals respectively