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Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome

World Journal of Gastroenterology 2009年第42期15卷 5364-5367页

作者： Surasawadee Ausavarat Petcharat Leoyklang Paisarn Vejchapipat Voranush Chongsrisawat Kanya Suphapeetiporn Vorasuk Shotelersuk interdepartment of Biomedical Sciences Faculty of Graduate SchoolDivision of Medical Genetics and MetabolismDepartment of PediatricsFaculty of MedicineChulalongkorn UniversityBangkok 10330Thailand Division of Pediatric Surgery Department of SurgeryFaculty of MedicineChulalongkorn UniversityBangkok 10330Thailand Division of Gastroenterology Department of PediatricsFaculty of MedicineChulalongkorn UniversityBangkok 10330Thailand Division of Medical genetics and Metabolism Department of PediatricsFaculty of MedicineChulalongkorn UniversityBangkok 10330Thailand

Peutz-Jeghers syndrome （PJS）, a rare autosomal dominant inherited disorder, is characterized by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. Patients with this syndrome have a predisposition to a variety of cancers in multiple organs. Mutations in the serine/threonine kinase 11 （STK11） gene have been identified as a major cause of PJS. Here we present the clinical and molecular findings of two unrelated Thai individuals with PJS. Mutation analysis by Polymerase Chain Reaction-sequencing of the entire coding region of STK11 revealed two potentially pathogenic mutations. One harbored a single nucleotide deletion （c.182delG） in exon 1 resulting in a frameshift leading to premature termination at codon 63 （***61AlafsX63）. The other carried an in-frame 9-base-pair （bp） deletion in exon 7, c.907_915del9 （***303_GIn305del）. Both deletions were de novo and have never been previously described. This study has expanded the genotypic spectrum of the STK11 gene.

关键词： Peutz-Jeghers syndrome Serine/threonine kinase 11 Novel mutations

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Optimization of Preparative Separation and Purification of Total Flavonoids from Radix Puerariae by Macroporous Resin Method

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Journal of Chinese Pharmaceutical Sciences 2006年第2期15卷 121-126页

作者：刘火安王伯初戴传云邵志勇何从林贾云重庆大学生物工程学院 interdepartment of genetics iowastate university Iowa 50011USA 重庆科技学院化学与生物工程学院

Aim To screen the optimum macroporous resin and conditions for the isolation and purification of flavonoids from Radix Puerariae. Methods The static and dynamic adsorption/desorption methods were used, and the separation and purification process was evaluated by measuring the concentration of total flavonoid in the fractions with UV spectrophotometer. Results The SP70 macroporous resin was the most effective compared with other macroporous resins. The optimum conditions were screened, which were 0.5 g· mL^- 1 corresponding to crude drug for concentration of extract, pH 5 - 6, and appended 60 times the volume of the resin bed （BV） with the adsorption speed 2 BV·h^-1, and the volume of aq. 70% （V/V） ethanol as eluant was 5 BV with desorption speed 2 BV·h^-1. By this method, the final contents of total flavonoids exceeded 80%. Conclusion The SP70 macroporous resin is the most effective one for large-scale isolation and purification of flavonoids from Radix Pueraria, which meets industrial needs.

关键词： Radix Puerariae total flavonoids macroporous resin separation purification

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