Senator Hazelwood, Vorasuk Shotelersuk, Scott C

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Evidence for Locus Heterogeneity in Puerto Ricans with Hermansky-Pudlak Syndrome Senator Hazelwood, Vorasuk Shotelersuk, Scott C. Wildenberg, David Chen, Fumino Iwata, Muriel I. Kaiser-Kupfer, James G. White, Richard A. King, William A. Gahl The American Journal of Human Genetics Volume 61, Issue 5, Pages 1088-1094 (November 1997) DOI: 10.1086/301611 Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 1 Pigment dilution in Puerto Rican patients with HPS. A patient homozygous for the 16-bp duplication in exon 15 of HPS has light eyebrows and eyelashes, with extensive iris transillumination (A), whereas, in contrast, patient 1 has significant hair pigmentation and negligible iris transillumination (B), and patient 2 has relatively dark hair and moderate iris transillumination (C). The American Journal of Human Genetics 1997 61, 1088-1094DOI: (10.1086/301611) Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 2 Electron micrograph of wet mount of platelets from a normal individual (A), patient 1 (B), and patient 2 (C) (×9,700). Patients 1 and 2 lack platelet dense bodies. The American Journal of Human Genetics 1997 61, 1088-1094DOI: (10.1086/301611) Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 3 Agarose gel electrophoresis of HPS fragment containing 16-bp duplication in exon 15. PCR fragments were amplified from the genomic DNA of two normal individuals (lanes 1 and 6), two classic Puerto Rican HPS patients (lanes 2 and 5), and our patients 1 and 2 (lanes 3 and 4). DNA size markers are on the right. The normal-size fragment is 269 bp; the 285-bp fragment reflects a 16-bp duplication. A 3% agarose gel was employed. The American Journal of Human Genetics 1997 61, 1088-1094DOI: (10.1086/301611) Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 4 Northern blot of HPS mRNA. Total RNA from normal kidney (lane 1), normal fibroblasts (lane 2), fibroblasts carrying the 16-bp duplication in HPS (lanes 3 and 4), and fibroblasts of patient 2 (lane 5) and of patient 1 (lane 6) were probed with the full-length HPS cDNA. Probing with β-actin indicates unequal loading, but lane 1 serves as a normal control for lane 6, and lane 2 provides a control for lane 5. Patients homozygous for the 16-bp duplication exhibited no HPS mRNA, whereas patients 1 and 2 displayed significant amounts of normal-size HPS mRNA. The American Journal of Human Genetics 1997 61, 1088-1094DOI: (10.1086/301611) Copyright © 1997 The American Society of Human Genetics Terms and Conditions

Figure 5 Map of Puerto Rico. Patients with the 16-bp duplication are from northwestern Puerto Rico (shaded). Our two patients have ancestors in Naranjito and Aibonito. The American Journal of Human Genetics 1997 61, 1088-1094DOI: (10.1086/301611) Copyright © 1997 The American Society of Human Genetics Terms and Conditions