Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: Implications for Gaucher disease
- National Institutes of Health, Bethesda, MD (United States)
We describe the use of long-template PCR to differentiate the glucocerebrosidase gene from its pseudogene, which will simplify molecular diagnostic testing and the detection of known and new mutations in patients with Gaucher disease. Gaucher disease results from the inherited deficiency of the lysosomal enzyme, glucocerebrosidase. Sixteen kilobases downstream of the glucocerebrosidase gene is a pseudogene, which is {approximately}2 kb shorter and has >96% identity to the coding regions of the functional gene. Many mutations encountered in Gaucher patients are identical to sequences ordinarily found only in the pseudogene, and some result from recombination between the gene and pseudogene. Thus, for diagnostic purposes it is essential to differentiate between sequences from the gene and pseudogene. 9 refs., 1 fig.
- OSTI ID:
- 478523
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 3 Vol. 59; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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