Detection of hemizygosity in Hermansky - Pudlak syndrome by quantitative real-time PCR

Clinical Genetics

Volumn 68, Issue 1, 2005, Pages 23-30

  Griffin, A E ^a   Cobb, B R ^b   Anderson, P D ^a   Claassen, D A ^a   Helip Wooley, A ^a   Huizing, M ^a   Gahl, William A ^a,c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Breakpoint; C10orf33; Genomic insertion deletion; Hemizygosity; Hermansky Pudlak syndrome; Real time quantitative PCR

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEEDING TENDENCY; CONTROLLED STUDY; DNA DETERMINATION; ENTEROCOLITIS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; GRANULOMATOSIS; HEMIZYGOSITY; HPS1 GENE; HUMAN; HUMAN CELL; LUNG FIBROSIS; LYSOSOME; MELANOSOME; OCULAR ALBINISM; PRIORITY JOURNAL; QUANTITATIVE DIAGNOSIS; REAL TIME POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 10; FEMALE; HERMANSKI-PUDLAK SYNDROME; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 20944432282     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00461.x     Document Type: Article

References (32)

1. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood 1959: 14: 162-169.
2. Gahl WA, Brantly M, Kaiser-Kupfer MI et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 1998: 338: 1258-1264.
3. King RA, Hearing VJ, Creel DJ, Oetting WS. In: The metabolic and molecular bases of inherited disease, 8th edn, Vol. 4 (Valle DL, Sly WS, eds). New York: McGraw-Hill, 2001: 5587-5627.
4. Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic 2000: 1: 823-835.
5. Huizing M, Gahl WA. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr Mol Med 2002: 2: 451-467.
6. Huizing M, Boissy RE, Gahl WA. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Res 2002: 15: 405-419.
7. Witkop CJ, Krumwiede M, Sedano H, White JG. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 1987: 26: 305-311.
8. Oh J, Bailin T, Fukai K et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 1996: 14: 300-306.
9. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor. Mol Cell 1999: 3: 11-12.
10. Anikster Y, Huizing M, White J et al. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 2001: 28: 376-380.
11. Suzuki T, Li W, Zhang Q et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002: 30: 321-324.
12. Zhang Q, Zhao B, Li W et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 2003: 33: 145-153.
13. Li W, Zhang Q, Oiso N et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbinding, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003: 35: 84-89.
14. Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Pulmonary function and high resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak Syndrome, due to mutations in HPS-1. Chest 2000: 117: 129-136.
15. Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA. Hermansky-Pudlak syndrome type 1 gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum Mutat 2002: 20: 482.
16. Dell'Angelica EC, Aguilar RC, Wolins N, Hazelwood S, Gahl WA, Bonifacino JS. Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene. J Biol Chem 2000: 275: 1300-1306.
17. Martina JA, Moriyama K, Bonifacino JS. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 2003: 278: 29376-29384.
18. Nazarian R, Falcon-Perez JM, Dell'Angelica EC. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci USA 2003: 100: 8770-8775.
19. Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem 2003: 278: 20332-20337.
20. Witkop CJ, Nunez Babcock M, Rao GH et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R 1990: 82: 333-339.
21. Gonzalez-Conejero R, Rivera J, Escolar G, Zuazu-Jausoro I, Vicente V, Corral J. Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance. Br J Haematol 2003: 123: 132-138.
22. Shotelersuk V, Hazelwood S, Larson D et al. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol Genet Metab 1998: 64: 99-107.
23. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989.
24. Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol 1997: 108: 923-927.
25. Livak KJ. Comparative Ct method. ABI Prism 7700 Sequence Detection System. User Bulletin no. 2. PE Applied Biosystems 1997.
26. Laurendeau I, Bahuau M, Vodovar N et al. TaqMan PCR-based gene dosage assay for predictive testing in individuals from a cancer family with INK4 locus haploinsufficiency. Clin Chem 1999: 45: 982-986.
27. Aarskog NK, Vedeler CA. Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 2000: 107: 494-498.
28. Wilke K, Duman B, Horst J. Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR. Hum Mutat 2000: 16: 431-436.
29. Hofhaus G, Shakeley RM, Attardi G. Use of polarography to detect respiration defects in cell cultures. Methods Enzymol 1996: 264: 476-483.
30. Chuzhanova N, Abeysinghe SS, Krawczak M, Cooper DN. Translocation and gross deletion breakpoints in human inherited disease and cancer II. Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends. Hum Mutat 2003: 22: 245-251.
31. Mahadeo R, Markowitz J, Fisher S, Daum F. Hermansky-Pudlak syndrome with granulomatous colitis in children. J Pediatr 1991: 118: 904-906.
32. Gahl WA, Brantly M, Troendle J et al. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab 2002: 76: 234-242.