Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: Identification of 11 novel mutations

Blood Cells, Molecules, and Diseases

Volumn 27, Issue 5, 2001, Pages 882-891

  Alfonso, Pilar ^a   Cenarro, Ana ^b   Pérez Calvo, Juan Ignacio ^c   Giralt, Manuel ^b   Giraldo, Pilar ^b   Pocoví, Miguel ^a  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

Author keywords

Gaucher disease; Genotyping; Glucocerebrosidase gene; Mutations; SSCP

Indexed keywords

BETA GLUCOCEREBROSIDASE; GENE PRODUCT; GLUCOSYLCERAMIDASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; GAUCHER DISEASE; GBA GENE; GENE AMPLIFICATION; GENE ISOLATION; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MAJOR GENE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; RELIABILITY; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN; ADOLESCENT; ADULT; GENETICS; GENOTYPE; INFANT; METHODOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADOLESCENT; ADULT; ALLELES; DNA MUTATIONAL ANALYSIS; GAUCHER DISEASE; GENOTYPE; HUMAN; INFANT; MIDDLE AGE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREVALENCE; SPAIN; SUPPORT, NON-U.S. GOV'T;

EID: 0035210351     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2001.0461     Document Type: Article

References (39)

1. Demonstration of a deficiency of glucocerebrosidase-cleaving enzyme in Gaucher's disease
2. Gaucher disease
3. Assignment of the gene coding for human β-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies
4. The human glucocerebrosidase gene and pseudogene: Structure and evolution
5. Gaucher's disease: Molecular, genetic and enzymological aspects
6. Hematologically important mutations: Gaucher disease
7. Gaucher disease in Spanish patients: Analysis of eight mutations
8. Detection of three rare (G377S T134P and 1451 del A, C) and two novel mutations (G195W and Rec [1263 del 55; 1342 G> C]) in Gaucher's disease patients
9. Report of the Spanish Gaucher's Disease Registry: Clinical and genetic characteristics
10. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
11. Detection of mutations and DNA polymorphisms in genes involved in cardiovascular diseases by polymerase chain reaction-single-strand conformation polymorphism analysis
12. Prediction of severity of Gaucher's disease by identification of mutations at DNA level
13. A simple salting out procedure for extracting DNA from human nucleated cells
14. Leukocyte β-glucosidase in homozygotes and heterozygotes for Gaucher disease
15. Marked elevation of plasma chitotriosidase activity: A novel hallmark of Gaucher disease
16. New Gaucher disease mutations in exon 10: A novel L444R mutation produces a new NciI site the same as L444P
17. The facile detection of the nt 1226 mutation of glucocerebroside by mismatched PCR
18. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients
19. Gaucher disease: Molecular heterogeneity and phenotype-genotype correlations
20. Genotype-phenotype pitfalls in Gaucher disease
21. Gaucher disease mutations in non-Jewish patients
22. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients
23. Molecular analysis and clinical findings in the Spanish Gaucher disease population: Putative haplotype of the N370S ancestral chromosome
24. Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations
25. Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R D315H and A318D)
26. Prevalent and rare mutations among Gaucher patients
27. Heterogeneity of mutations in the acid β-glucosidase gene of Gaucher disease patients
28. Splicing of messenger RNA precursors
29. Three unique base pair changes in a family with Gaucher disease
30. Non-pseudogene-derived complex acid β-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease
31. Gaucher disease: Four families with previously undescribed mutations
32. A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease
33. Glu- cocerebrosidase mutations in Gaucher disease
34. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
35. Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucocerebrosidase gene
36. 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 β-glucosidase gene
37. Identification of six new Gaucher disease mutations
38. Mutation analysis in 48 British and Irish Gaucher patients: Identification of two new missense mutations and two new recombinant alleles
39. Complex alleles of the acid β-glucosidase gene in Gaucher disease