Fig. 4

Validation of mutation in the BMP8B gene by Sanger sequencing and X-chromosome inactivation assay (HUMARA) of pulmonary metastasis and peripheral blood of the BML patient. HpaII+ denotes enzyme-digested DNA and HpaII− means undigested DNA. Pulmonary metastasis demonstrates a pattern of nonrandom X-chromosome inactivation with a nearly complete absence of the androgen receptor longer allele after HpaII digestion. The DNA sequence electropherogram shows the reverse strand of the BMP8B gene