Further characterization of Sacl RFLPs at the Acid Alpha Glucosidase (GAA) locus
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چکیده
منابع مشابه
Two RFLPs at the TNP1 locus.
Source/Description: The Human Transition Protein 1 gene (TNP1) probe (1) used was a 700 bp genomic DNA sequence cloned into the Smal site of pUC8 and was supplied by W.Engel. Polymorphisms: TNP1 identifies a two allele polymorphism with TaqI: Al = 9.6 kb; A2 = 8.4 kb. Frequency: Analysis of 20 unrelated individuals yielded frequencies: Al = 0.23; A2 = 0.77. Rsal in a screen of 10-20 unrelated i...
متن کامل[Acid alpha-glucosidase deficiency: Pompe's disease].
The development and recent approval of recombinant acid alpha-glucosidase for enzyme replacement therapy have been major milestones in Pompe disease research. Acid alpha-glucosidase is the enzyme responsible for degradation of glycogen polymers to glucose in the acidic milieu of the lysosomes. Cardiac and skeletal muscles are the two major tissues affected by the accumulation of glycogen within...
متن کاملAdult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population.
Thirteen South Wales kindreds with adult polycystic kidney disease have been studied for genetic linkage using the alpha globin and 3'HVR probes. A maximum lod score of 24.187 was found at a recombination fraction of 0.03. This study supports the existence of a single locus on chromosome 16 responsible for the disorder.
متن کاملConfirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palate.
Three RFLPs at the TGFA locus were studied in 60 unrelated British Caucasian subjects with non-syndromic cleft lip/palate and 60 controls. A highly significant association between the TaqI RFLP and the occurrence of clefting was found (chi 2 = 15.04, p = less than 0.001). No significant association was found with the two other RFLPs studied (BamHI and RsaI). Haplotypes derived from the three RF...
متن کاملCharacterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.
Different clinical expressions of acid alpha-glucosidase deficiency have been described. The present study was undertaken to investigate the basic metabolic defect in the infantile and adult forms of the disease. Acid alpha-glucosidase (EC 3.2.1.20) was purified from normal and from adult acid alpha-glucosidase deficiency fibroblasts. The pH optimum; Michaelis constant; electrophoretic mobility...
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ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1990
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/18.7.1930-a