Example Wiskott-Aldrich syndrome + HLA

Figure 3. Preimplantation HLA matching in combination with PGD for Wiskott-Aldrich syndrome (WAS), resulting in the birth of a carrier female, HLA matched with the affected sibling. (Upper panel) Determination of the different haplotypes from father, mother and affected child (lower panel-left side, black square) by segregation analysis of the alleles obtained after STR genotyping of the WAS gene . Informative STR markers used are ordered from telomere (top) to centromere (bottom). Paternally and maternally derived HLA haplotypes, matched to the affected child, and STR alleles linked to the paternal and maternal mutations, are shown in boldface. Examples of different results of WAS gene mutation analysis and HLA haplotyping from biopsied blastomeres are shown in the lower panel. Embryos 5 (normal male) and 11 (carrier female) resulted HLA non-identical. Embryo 18 was diagnosed as HLA matched, but affected. Embryo 14, representing a carrier female HLA matched with the affected sibling, was transferred, resulting in the birth of a HLA matched unaffected child. ET = Embryo Transfer.

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