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Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (norrbottnian type)
Author(s) -
Dahl Niklas,
Wadelius Claes,
Annerén Göran,
Gustavson KarlHenrik
Publication year - 1992
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970120706
Subject(s) - glucocerebrosidase , prenatal diagnosis , mutation , heterozygote advantage , compound heterozygosity , medicine , exon , pregnancy , population , fetus , disease , genetics , gene , biology , genotype , environmental health
A single base substitution in exon 10 of the glucocerebrosidase gene was detected in families affected by Gaucher disease (GD) type III. This mutation, which results in the substitution of proline for leucine in position 444 of glucocerebrosidase, has been shown to result in type III GD in a Swedish population. Three fetuses at risk for GD type III were diagnosed as homozygous for the mutation and the pregnancies were terminated. In a fourth pregnancy, one parent was excluded as being a carrier and the risk of having a child affected by GD was ignored. Direct analysis of common mutations causal to GD is now available and improves prenatal diagnosis in families where the molecular defect has been characterized.