[Analysis of association of Col1a1 gene alleles with the development of osteoporosis]. / Analiz assotsiatsii allelei gena Col1a1 s razvitiem osteoporoza.

Allele frequencies of the G-->T polymorphism at the regulatory region of the Collal gene in the population of the northwestern Russia (control group) and in osteoporotic patients were estimated by the RFLP method based on PCR-mediated site-directed mutagenesis. Three patient groups with radiologically confirmed osteoporosis were examined. Group 1 consisted of 64 patients with severe osteoporosis complicated by fractures (SO); group 2 included 15 children with idiopathic osteoporosis (IO); group 3 consisted of 98 women with postmenopausal osteoporosis developed at the background of estradiol-deficiency state (PMO). The frequency of functionally defective allele s in the control group was 16.7%. It was statistically different from that in the SO patients (48.4%) (P < 0.01) and in the IO children (40%) (P < 0.01). The frequency of allele s in the PMO patients constituted 23.0% and it was similar to that in the control group (P > 0.05). Analysis of the Collal alleles provides early detection of the individuals with hereditary predisposition to osteoporosis and prophylaxis of the disease at the presymptomatic stage.

[Diagnosis of short-term subclinical shifts in the level of humoral parameters]. / Diagnostika kratkovremennykh subklinicheskikh sdvigov urovnia gumoral'nykh pokazatelei.

Algorithm of evaluating the blood humoral parameters has been theoretically and experimentally validated and clinically tried with due consideration for the circaseptan fluctuations in their levels. Probability of deviations from the normal range of values depends on the number of measurements making use of the suggested algorithm.