{'fraction_non_alphanumeric': 0.03929824561403509, 'fraction_numerical': 0.013333333333333334, 'mean_word_length': 5.0168776371308015, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
A Novel Splice Site Mutation in a Brazilian Patient with Hereditary Antithrombin Deficiency Type I

Source of Material. The proband is a 30-year-old male patient who had deep vein thrombosis and pulmonary embolism, in March 1994. His father and aunt (father’s sister), who are deceased, had deep vein thrombosis at young age. In the proband, AT deficiency was diagnosed on the basis of reduced levels of activity (54%) and antigen (57%) in plasma. Of the family members, one brother and a nephew, who were asymptomatic, had decreased AT activity, with levels of 63 and 59%, respectively. Methods. Genomic DNA was isolated from peripheral blood leukocytes according to standard procedures. Each of the 7 exons and all the exon/intron junctions of the AT gene were amplified by PCR, using allele-specific primers. The amplified fragments were submitted to nonradioactive single strand conformation polymorphism (SSCP). Independent of results obtained from SSCP, the amplified fragments were submitted to another screening method, conformational sensitive gel electrophoresis (CSGE). Direct sequencing was performed by the Sanger method, using the Thermo-Sequenase Cycle Sequencing Kit (United States Biochemical, Cleveland, Ohio, USA) with the same sense primer as used for PCR amplification. Fig. 1. Patient direct sequencing of the amplified exon 1 AT gene, showing the mutation in intron 1 at nucleotide position +5 (G → A).