Analysis of the alpha-1-antitrypsin deficient alleles M3S, MZ, and ZZ by biochemical and molecular methods: a family study.

Deficiency of alpha-1-antitrypsin (alpha(1)-AT, a major protease inhibitor controlling tissue degradation) is a genetic disorder transmitted in a codominant autosomal form. It has more than 100 genetically determined variants. This study attempted to determine the degree of association between serum alpha(1)-AT levels and phenotypes and to provide a strategy for reliable laboratory evaluation of deficiencies. The study group consisted of a 38-year-old male proband with clinical features of emphysema, his first-degree relatives, and healthy controls. Family history revealed a four-generation pedigree. Genomic DNA was isolated from peripheral blood leukocytes. Alpha-1-AT levels were determined from human serum by immunonephelometry. Phenotypes were determined by isoelectric focusing of blood samples. DNA sequences of coding exons were analyzed by the amplification DNA technique and direct sequencing. Inheritance and plasma levels of the ZZ, MM, M3S, and MZ phenotypes were confirmed by the family study. In the family members with deficiencies, plasma concentrations were 22.55% +/- 5.15 (ZZ), 84.18% +/- 5.18 (M3S), and 61.06% +/- 7.15 (MZ) of the normal MM level. We found a close association between alpha(1)-AT level and genotype. A combination of genotyping, quantification, and phenotyping is the optimal strategy for the laboratory evaluation of alpha(1)-AT deficiency.

Total antioxidant capacity and superoxide dismutase activity levels in serum and gingival crevicular fluid in post-menopausal women with chronic periodontitis.

OBJECTIVES: Menopause has been linked with oxidative stress and decreased antioxidant (AO) defence. A connection has been established between menopause and certain periodontal conditions. The objective of this study is to compare serum and gingival crevicular fluid (GCF) total antioxidant capacity (TAOC) and superoxide dismutase (SOD) concentrations in post-menopausal patients with chronic periodontitis (PMCP) with those of pre-menopausal chronic periodontitis patients (CP). MATERIAL AND METHODS: Thirty-two PMCP patients, 31 CP patients, 25 post-menopausal periodontally healthy controls (PMPH) and 26 pre-menopausal controls (PH) were studied. After clinical measurements and samplings, serum and GCF TAOC and SOD concentrations were established in turn using an automated TAOC assay and spectrophotometric end point measurement. The results were analysed statistically. RESULTS: Serum and GCF TAOC and SOD concentrations were significantly lower in menopause and periodontitis (p<0.05). The lowest values were in the PMCP group, whereas the highest values were in the PH group. While the effect of menopause was more evident in serum antioxidant analysis, the effect of periodontitis was observed to be more apparent in GCF. CONCLUSIONS: A decrease in systemic and local AO defence was observed owing to both menopause and periodontitis. The lowest AO values in the PMCP group suggest that menopause may be a risk factor for periodontitis.