Differential SMN2 expression associated with SMA severity.
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Alternative Splicing↗
Biomedical subjects
D K Gavrilov
Publications and source records attributed to D K Gavrilov.
Frequency analysis of HLA-DQA1 and HLA-DQB1 gene alleles and susceptibility to type 1 diabetes mellitus in Russian patients.
The HLA-DQA1 and DQB1 genes have recently been recognized to be strong genetic markers of susceptibility to type 1 (insulin-dependent) diabetes mellitus. The Arg52 DQA1 and non-Asp57 DQB1 alleles of these genes correlate with the disease predisposition and the Asp57 DQB1 and non-Arg52 DQA1 alleles with disease protection. We investigated 113 patients with type 1 diabetes and 121 healthy subjects from the Russian population of Moscow using DNA amplification and dot-blot hybridization with sequence-specific oligonucleotides (SSO). Using conventional statistical methods we confirmed previous observations indicating the important role of the above-mentioned amino acid residues in susceptibility and resistance to type 1 diabetes. Relative risk values for all alleles and absolute risk for carriers of most predisposing allele combinations were calculated. The absolute risk for carriers of DQA1 and DQB1 gene alleles allowing for the formation of four possible 'diabetogenic' heterodimers on the surface of immunocompetent cells, regardless of the type of coding (cis or trans), was 2.54%, which is 13 times greater than the background risk for the Russian population--0.2% up to 30 years of age.
Adolescent↗
The use of synthetic oligonucleotide primers for amplification of a variable number of tandem repeats loci for paternity testing.
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Chromosomes, Human, Pair 1↗
The uses of synthetic oligonucleotide primers for prenatal diagnosis of sex in chorionic villa via the polymerase chain reaction.
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Chorionic Villi Sampling↗
The use of PCR technique and sequence specific oligonucleotides for HLA-DQA1 and DQB1 gene typing in a group of insulin-dependent diabetes mellitus patients in the Russian population of Moscow.
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DNA↗
[Use of the polymerase chain reaction for typing allelic variants of the human HLA-DQA1 by hybridization with oligonucleotide probes, specific for specific alleles].
Class II HLA molecules are the most useful markers for susceptibility to different autoimmune diseases, including insulin-dependent diabetes mellitus (IDDM) and rheumatoid arthritis (RA). Polymerase chain reaction and hybridization with a set of allele-specific oligonucleotide have been used for analysis of allelic sequence variation. The analysis of frequencies of HLA-DQA1 alleles among 10 patients of the russian population revealed a uneven distribution. We have developed a method for preparing non-radioactive oligonucleotide probes with terminal deoxynucleotidyl transferase and Bio-11-dUTP. Comparison of biotinylated and 32P-labeled hybridization probes gave the same sensitivity for HLA-DQA1 typing of amplified DNA. Amplification of the HLA-DQA1 gene has been successful on 10 pg of total DNA. This amount of DNA is close to the amount of DNA in a single cell. Alternatively, HLA-DQA1 typing could be based on the analysis of buccal cells of saliva that would avoid the problem of individuals who object to giving blood samples.
Alleles↗
[Analysis of the distribution of alleles of four hypervariable tandem repeats among unrelated Russian individuals living in Moscow, using the polymerase chain reaction].
Allele frequencies of four VNTR regions (loci D1S80, D17S30, APOB and IGHJ) were determined in 120 unrelated Russian individuals living in Moscow. The high level of length polymorphism was discovered among alleles of these VNTRs. The genotype distribution of these hypervariable regions was established on the basis of experimental data. The comparative analysis showed the likeness between the allele distributions of these VNTRs among Russians and other groups of Caucasians living in Europe and North America.
Base Sequence↗