[A genetic analysis of endocrine diseases of the thyroid and pancreas].

The genetic determination of insulin-dependent (IDDM) and non-insulin-dependent (NIDDM) diabetes mellitus and thyroid gland diseases (TGD) was carried out using clinical-genealogical data on 229 patients with IDDM, 275 patient with NIDDM, 247 patients with TGD and their relatives. Results of component decomposition showed the role of genetic factors in the determination of these diseases and the existence of interloci interaction in genetic control of IDDM and NIDDM. The genetic independence of these diseases and genetic homogeneity of NIDDM were revealed using models of Ch.

[An analysis of the linkage of hypertrophic cardiomyopathy and the delta locus of the T-cell receptor (TCRD) chain in the family of P].

Aim: To estimate probability of location of the gene determining family hypertrophic cardiomyopathy (HCMP) in family P. on the 14th chromosome in segment 14q11 using parametric method "lod score".

Materials And Methods: The family of proband P.

[Analysis of linkage of HLA antigens and rheumatoid arthritis].

Based on consistent associations of rheumatoid arthritis (RA) with some HLA antigens several authors hypothesized the existence of a gene of susceptibility to RA, linked closely with the HLA loci and in disequilibrium with associated alleles. Data on six pedigrees (four of these involved three generations) with recurrent diseases (in total, 45 individuals, 13 of whom were affected with RA) were used in the linkage analysis. The data on allelic typing of HLA-A and -B loci were combined to form a "superlocus" that enabled more accurate determination of an individual genotype for the marker.

[Features of linkage analysis of a "key" gene of a disease].

Peculiarities of linkage analysis are considered for the case of disease inheritance deviation from a simple Mendelian pattern, including incomplete and different for two sexes penetrance of genotypes and possible presence of phenocopies. With regard for the peculiarities and within the frames of the likelihood ratio method, a software package was developed and tested on IBM PC-compatible computers. The package allows one to obtain the highest lod score for small pedigrees and the corresponding estimates of recombination frequency in men and women.

[Genetic determination of rheumatoid arthritis. Distribution of certain Mendelian markers in the light of correspondence of the disease heritability to the model of single autosomal two-allele locus with incomplete penetrance].

The study on the nature of distribution of certain mendelian markers aimed at specifying their role in determination of rheumatoid arthritis disease was carried out, based on the material from the Family Data Bank of the Department of Epidemiology and Genetics of the rheumatic diseases in this institute comprising data on 200 families of patients with definite rheumatoid arthritis (RA). Antigens of HLA-system (the loci A, B, DR), ABO blood groups, Rh, MN and P, phenotypes of acid erythrocyte phosphatase and the types of haptoglobin were studied. Based on the data from this and the previous studies, it is established that the steadiest deviations of the RA patients groups from the general population concerned the frequency of HLA A11, B12, B27 and DR4, blood group P and phenotypes of the acid erythrocyte phosphatase.