55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles

American Journal of Medical Genetics

Volumn 66, Issue 3, 1996, Pages 316-319

  Tayebi, N ^a   Stern, H ^b   Dymarskaia, I ^a   Herman, J ^a   Sidransky, E ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b GEORGE WASHINGTON UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

deletion; Gaucher disease; genotyping; glucocerebrosidase; pseudogene

Indexed keywords

DNA; GLUCOSYLCERAMIDASE;

ALLELISM; ARTICLE; BASE PAIRING; DNA DETERMINATION; ENZYME ANALYSIS; GAUCHER DISEASE; GENE DELETION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

ALLELES; EXONS; GAUCHER DISEASE; GENETIC SCREENING; GENOTYPE; GLUCOSYLCERAMIDASE; HUMANS; POLYMERASE CHAIN REACTION; PSEUDOGENES; SEQUENCE DELETION;

EID: 0030443530     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961218)66:3<316::AID-AJMG15>3.0.CO;2-P     Document Type: Article

References (20)

1. Beutler E, Gelbart T (1994): Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion. Hum Mutat 4:212-216.
2. Beutler E, Grabowski GA (1995): Gaucher disease. In Scriver CR, Obeaudet A, Sly W, Valle D (eds): "The Metabolic and Molecular Bases of Inherited Disease." 7th ed. New York: McGraw-Hill Publishing Company, pp 2641-2670.
3. Beutler E, Gelbart T, West C (1990): The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR. Clin Chim Acta 194:161-166.
4. Beutler E, Gelbart T, West C (1993): Identification of six new Gaucher disease mutations. Genomics 15:203-205.
5. Beutler E, Gelbart T, Demina A, Zimran A, LeCoutre P (1995): Five new Gaucher disease mutations. Blood Cells, Mol Dis 21:20-24.
6. Choy FY, Woo Y, Der Kaloustian VM (1991): Molecular analysis of Gaucher disease: Screening of patients in the Montreal/Quebec region. Am J Med Genet 41:466-471.
7. Eyal N, Wilder S, Horowitz M (1990): Prevalent and rare mutations among Gaucher patients. Gene 96:277-283.
8. Horowitz M, Zimran A (1994): Mutations causing Gaucher disease. Hum Mutat 3:1-11.
9. Laubscher KH, Glew RH, Lee RE, Ikinaka RT (1994): Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucocerebrosidase gene. Hum Mutat 3:411-415.
10. Martin BM, Sidransky E, Ginns EI (1989): Gaucher's disease: Advances and challenges. Adv Pediatr 36:277-306.
11. Mistry PK, Smith SJ, Ali M, Hatton CS, McIntyre N, Cox TM (1992): Genetic diagnosis of Gaucher's disease. Lancet 339:889-892.
12. Reiner O, Wigderson M, Horowitz M (1988): Structural analysis of the human glucocerebrosidase genes. DNA 7:107-116.
13. Sambrook J, Fritsch EF, Maniatis T (1989): "Molecular Cloning: A Laboratory Manual," 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory.
14. Sidransky E, Ginns EI (1993): Clinical heterogeneity among patients with Gaucher's disease [clinical conference]. JAMA 269: 1154-1157.
15. Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI (1992): DNA mutation analysis of Gaucher patients. Am J Med Genet 42:331-336.
16. Sidransky E, Bottler A, Stubblefield B, Ginns EI (1994): DNA mutational analysis of type 1 and type 3 Gaucher patients: How well do mutations predict phenotype? Hum Mutat 3:25-28.
17. Theophilus BD, Latham T, Grabowski GA, Smith FI (1989): Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene. Nucleic Acids Res 19:7707-7722.
18. Uchiyama A, Tomatsu S, Kondo N, Suzuki Y, Shimozawa N, Fukuda S, Sukegawa K, Taki N, Inamori H, Orii T (1994): New Gaucher disease mutations in exon 10: A novel L444R mutation produces a new NciI site the same as L444P. Hum Mol Genet 3:1183-1184.
19. Walley AJ, Harris A (1993): A novel point mutation (D380A) and a rare deletion (1255del55) in the glucocerebrosidase gene causing Gaucher's disease. Hum Mol Genet 2:1737-1738.
20. Zimran A, Kuhl WC, Beutler E (1990): Detection of the 1226 (Jewish) mutation for Gaucher's disease by color PCR. A means for studying the gene frequency of the disorder. Am J Clin Pathol 93: 788-791.