Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: Identification of four novel mutations

Journal of Inherited Metabolic Disease

Volumn 20, Issue 1, 1997, Pages 67-73

  Ida, H ^a   Rennert, O M ^b   Kawame, H ^a   Maekawa, K ^a   Eto, Y ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE;

ADOLESCENT; CHILD; CLINICAL ARTICLE; GAUCHER DISEASE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; HUMAN; POLYMERASE CHAIN REACTION; REVIEW; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; CELLS, CULTURED; FIBROBLASTS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; JAPAN; LEUKOCYTES; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREVALENCE;

EID: 0031043599     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005313724361     Document Type: Review

References (15)

1. Balicki D, Beutler E (1995) Gaucher disease. Medicine 74: 305 -323.
2. Beutler E, Gelbart T (1993) Gaucher disease mutations in non-Jewish patients. Br J Haematol 85: 401-405.
3. Beutler E, Gelbart T, Kuhl W, Zimran A, West C (1992) Gaucher disease: new molecular approaches to diagnosis and treatment. Science 256: 794-799.
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. Horowitz M, Zimran A (1994) Mutations causing Gaucher disease. Hum Mutat 3: 1-11.
7. Horowitz, M, Tzuri G, Eyal N, et al (1993) Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Am J Hum Genet 53: 921-930.
8. Ida H, Iwasawa K, Kawame H, Rennert OM, Mackawa K, Eto Y (1995) Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations. Hum Genet 95: 717-720.
9. Kawame H, Eto Y (1991) A new glucocerebrosidase gene missense mutation responsible for neuropathic Gaucher disease in Japanese patients. Am J Hum Genet 49: 1378-1380.
10. Kawame H, Hasegawa Y, Eto Y, Maekawa K (1992) Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms. Hum Genet 90: 294-296.
11. Kawame H, Maekawa K, Eto Y (1993) Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes. Hum Mutat 2: 362-367.
12. Laubscher KH, Glew RH, Lee RE, Okinaka RT (1994) Use of denaturing gradient gel electrophoresis to identify mutant sequences in the glucocerebrosidase gene. Hum Mutat 3: 411-415.
13. Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA (1993) Phenotype/genotype correlations in Gaucher disease type 1: clinical and therapeutic implications. Am J Hum Genet 52: 1094-1101.
14. Theophilus BDM, Latharn T, Grabowski GA, Smith I (1989) Comparison of RNase A, chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid β-glucosidase gene. Nucl Acids Res 17: 7707-7722.
15. Zimran A, Sorge J, Gross E, Kubitz M, West C (1989) Prediction of severity of Gaueher's disease by identification of mutations at DNA level. Lancet 2: 349-352.