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. Author manuscript; available in PMC: 2023 Sep 1.
Published in final edited form as: J Bone Miner Res. 2022 Jul 10:10.1002/jbmr.4647. doi: 10.1002/jbmr.4647

Figure 2: Pedigree and microsatellite markers of AD-PHP1B family 208.

Figure 2:

Analysis of microsatellites from this family reveals that the four affected children of unaffected female 208/I-2 share the same maternally inherited chromosome 20 microsatellites telomeric of STX16 (yellow). Two affected grandchildren (individuals 208/III-1 and 208/III-3) also carry the same allele while two unaffected grandchildren inherited a maternal allele not linked to the disease. Analysis of genomic DNA by MS-MLPA revealed LOM at GNAS exon A/B for all six affected individuals (shown as % A/B LOM), consistent with inheritance of the disease-associated allele from a female. Note that a recombination event was observed between 261P9-CA1 and 806M20-CA for the two unaffected children (208/III-2 and 208/III-4) of the affected female 208/II-5. Small squares indicate that genomic DNA was not available for these individuals; gray circles indicate an unaffected carrier of the mutation; dashes indicate that evaluation of the marker failed; genomic DNA was not available for individuals 208/I-1 and 208/II-1.