title: DNA mutation analysis of Gaucher patients.
abstract: We evaluated 62 Gaucher patients to determine whether patients with similar phenotypes had the same DNA point mutations. Genomic DNA from these Gaucher patients was screened for the 3 most frequent single-point mutations, occurring in 69% of the 124 patient alleles, and resulting in changes in amino acids 370, 444, and 463. Many different genotypes were observed, at least one of which is present in all 3 types of Gaucher disease. No specific symptom complex could be correlated with a unique genotype. Even the more clinically homogeneous subgroups of Gaucher patients contained several genotypes. This study further emphasizes the need for caution in making clinical predictions on the basis of current genotype analysis, especially since one might not discern a fetus affected with type 2 disease by current DNA studies. The severity of involvement in type 1 disease could also not be predicted. Thus, even limiting our focus to 3 isolated common point mutations, a given genotype cannot be uniquely correlated with a specific prognosis.
authors.affiliation: Section on Molecular Genetics, National Institute of Mental Health, Bethesda, Maryland 20892.
authors.forename: E
authors.initials: E
authors.lastname: Sidransky
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: B M
authors.initials: BM
authors.lastname: Martin
authors.forename: B
authors.initials: B
authors.lastname: Stubblefield
authors.forename: E I
authors.initials: EI
authors.lastname: Ginns
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005776:Gaucher Disease / Q000145:classification* / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D008875:Middle Aged; D008969:Molecular Sequence Data; D010641:Phenotype