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We have optimized a battery of reverse dot blot oligonucleotide probes for detecting the most common β‐globin gene mutations in Asians and American Blacks. These probes allow a high degree of coverage of mutant chromosomes in these two populations and are useful in mutation screening and...
Two intragenic deletions (exon 18–19 and exon 24) and two point mutations (one missense mutation in exon 21 and one mutation at splice‐donor site for exon 13) were detected in the retinoblastoma gene in somatic and tumor cells of patients with hereditary retinoblastoma. Three mutations were...
The triplet repeat sequences (CGG)n, (GCT)n, and (CAG)n, which naturally occur in the human genome, can be autonomously expanded in human DNA by an as yet unknown mechanism. These in part excessive expansions have been causally related to human genetic diseases, the fragile X (Martin–Bell)...
The familial adenomatous polyposis gene, APC, has recently been identified. Detection of APC mutations will facilitate genetic screening in family members at risk for this disease. The length of APC makes it impractical to examine the entire coding sequence in each new family encountered....
We have applied time‐resolved fluorometry (TRF) to construct a DNA hybridization assay for the diagnosis of Leber hereditary optic neuroretinopathy (LHON). A rapid and reliable detection of the most prevalent mitochondrial DNA (mtDNA) point mutation associated with LHON is demonstrated. In...
The wide spectrum of clinical manifestations resulting from glucocerebrosidase deficiency complicates genetic counseling for Gaucher disease. The identification of mutations in the glucocerebrosidase gene has enabled studies of genotype–phenotype correlation. However, a genotypic analysis of 60...
Glucocerebrosidase is a lysosomal enzyme responsible for hydrolysis of glucosylceramide to ceramide and glucose. Mutations disrupting the function of this enzyme cause autosomal recessive Gaucher disease. This disease is very heterogeneous. The clinical heterogeneity is due to a large number of...
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