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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Chakraborty, S. Rafi, M. A. Wenger, D. A. |
| Spatial Coverage | Scandinavian and Nordic Countries |
| Description | Country affiliation: Panama Author Affiliation: Chakraborty S ( Department of Biochemistry, Thomas Jefferson University, Philadelphia, PA.) |
| Abstract | Three adult patients with acid beta-galactosidase deficiency/GM1 gangliosidosis who were from two unrelated families of Scandinavian descent were found to share a common point mutation in the coding region of the corresponding gene. The patients share common clinical features, including early dysarthria, mild ataxia, and bone abnormalities. When cDNA from the two patients in family 1 was PCR amplified and sequenced, most (39/41) of the clones showed a C-to-T transition (C-->T) at nucleotide 245 (counting from the initiation codon). This mutation changes the codon for Thr(ACG) to Met(ATG). Mutant and normal sequences were also found in that position in genomic DNA, indicating the presence of another mutant allele. Genomic DNA from the patient in family 2 revealed the same point mutation in one allele. It was determined that in each family only the father carried the C-->T mutation. Expression studies showed that this mutation produced 3%-4% of beta-galactosidase activity, confirming its deleterious effects. The cDNA clones from the patients in family 1 that did not contain the C-->T revealed a 20-bp insertion of intronic sequence between nucleotides 75 and 76, the location of the first intron. Further analysis showed the insertion of a T near the 5' splice donor site which led to the use of a cryptic splice site. It appears that the C-->T mutation results in enough functional enzyme to produce a mild adult form of the disease, even in the presence of a second mutation that likely produces nonfunctional enzyme. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 6 |
| Volume Number | 54 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1994-06-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Gangliosidosis, Gm1 Genetics Mutation Point Mutation Beta-galactosidase Deficiency Alleles Blood Dna Mutational Analysis Exons Enzymology Ethnology Gene Expression Heterozygote Detection Introns Lysosomes Molecular Sequence Data Pedigree Polymerase Chain Reaction Scandinavian And Nordic Countries Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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