Figure 4.

Cellular expression of HPS1 in healthy research volunteers, but not in subjects with Hermansky-Pudlak syndrome type 1 (HPS-1). (A) Northern blot analysis revealed that alveolar macrophages (AM) and fibroblasts from healthy research volunteers (NV), and not alveolar macrophages from subjects with HPS-1, express HPS1 mRNA. (B) Amplification of cDNA by reverse transcriptase-polymerase chain reaction (RT-PCR) using primers for HPS1 demonstrated that a 414-base pair (bp) HPS1 PCR product is expressed in peripheral blood mononuclear cells (PBMCs) and alveolar macrophages (AM) from two representative healthy volunteers (NV1 and NV2), but not in PBMCs from a representative subject with HPS-1. A 353-bp RT-PCR product was generated using primers for human β-actin.