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. Author manuscript; available in PMC: 2017 Jul 5.
Published in final edited form as: Hum Mutat. 2012 Oct 17;34(1):237–247. doi: 10.1002/humu.22224

Figure 3.

Figure 3

The analysis of possible X-inactivation in familial cases of OFD1 and two patients with deletion of the entire gene. A: Family 1; B: Family 6; C: Family 10; D: Family 19; and E: Family 27. F: Patients 29 and 30 with deletion of OFD1, and the results of the assay in DNA from a healthy male used as a control. Alleles of the CAG repeat in the androgen receptor gene, AR, on Xq22 are shown before (HhaI-) and after (HhaI+) restriction enzyme digestion, and the affection status of the individuals tested is show on the pedigrees. The sizes of the alleles are shown in bp, and the allele carrying the OFD1 mutation is labelled red, bold, and underlined, when it was possible, via haplotyping, to track the mutant allele in the family. The segregation of the AR alleles in family 24 was not informative, so that the mutation allele could not be identified.