The frequency of nine different mutated alleles known to occur in the 
glucocerebrosidase gene was determined in 247 Gaucher patients, of whom 176 were 
of Jewish extraction, 2 were Jewish with one converted parent, and 69 were of 
non-Jewish origin. DNA was prepared from peripheral blood, active 
glucocerebrosidase sequences were amplified by using the PCR technique, and the 
mutations were identified by using the allele-specific oligonucleotide 
hybridization method. The N37OS mutation appeared in 69.77% of the mutated 
alleles in Jewish patients and in 22.86% of the mutated alleles in non-Jews. The 
84GG mutation, which has not been found so far among non-Jewish patients, 
existed in 10.17% of the disease alleles among Jewish patients. The IVS + 1 
mutation constituted 2.26% of the disease alleles among Jewish patients and 
1.43% among the non-Jewish patients. RecTL, a complex allele containing four 
single-base-pair changes, occurred in 2.26% of the alleles in Jewish patients 
and was found in two (1.43%) of the patients of non-Jewish extraction. Another 
complex allele, designated "RecNciI" and containing three single-point 
mutations, appeared in 7.8% of alleles of non-Jewish patients and in only two 
(0.56%) of the Jewish families. The prevalence of the L444P mutation among 
non-Jewish Gaucher patients was 31.43%, while its prevalence among Jewish 
patients was only 4.24%. The prevalence of two other point mutations--D409H and 
R463C--was 5.00% and 3.57%, respectively, among non-Jewish patients and was not 
found among the Jewish Gaucher patient population. The prevalence of the R496H 
mutation, found so far only among Jewish patients, was 1.13%. The results 
presented demonstrate that seven mutations identify 90.40% of the mutations 
among Jewish patients and that these seven mutations allow diagnosis of only 
73.52% of the non-Jewish patients. Identification of additional mutant alleles 
will enhance the accuracy of carrier detection.