Spectrum of mutations in BRCA1 gene in hereditary forms of breast and ovarian cancer in Russian families.

The 5382insC mutation predominated (94%) in the spectrum of detected mutations of BRCA1 gene. High incidence of this mutation in familial breast cancer detected for the first time attested to origination of 5382insC mutation from the European part of Russia. The percentage of families with mutations in BRCA1 gene and familial predisposition to ovarian cancer was significantly higher than in hereditary predisposition to breast cancer (p<0.

[TUB9 polymorphism in the CFTR gene of cystic fibrosis patients, carriers, and healthy donors from the Moscow region. SSCP and restriction analyses].

Data on the screening of 266 non-delta F508 chromosomes (42 cystic fibrosis patients, 43 carriers, and 48 healthy donors from the Moscow region) for the presence of structural abnormalities within the tenth exon of the CFTR gene conducted by means of the single-stranded conformation polymorphism (SSCP) technique in nonisotope modification are presented. The method used made it possible to detect three SSCP variants, one of which was present in cystic fibrosis patients (23.8%) and carriers (9.

[Cosmid libraries containing DNA from human chromosome 13].

We characterized two cosmid libraries constructed from flow-sorted chromosome 13 at the Imperial Cancer Research Fund (ICRF), UK (13,000 clones) and Los Alamos National Laboratory (LANL), USA (17,000 clones). After storage for two years, clones showed high viability (95%) and structural stability. EcoR I and Hind III restriction patterns were studied in more than 500 ICRF and 200 LANL cosmids.

[Determination and analysis of the primary structure of a genomic sequence adjacent to the 3'-end of the human tissue plasminogen activator gene].

Primary structure was determined for the recently cloned f1/BglII-fragment [19] containing 2102 b.p. of the human tissue plasminogen activator (tPA) gene 3' end and adjacent DNA region.

[Isolation and characteristics of DNA fragments for the region of the tissue plasminogen activator genes and areas adjacent to it in the human genome].

Fragments overlapping the tPA gene and its 5'- and 3'-flanking regions were isolated from human liver DNA library cloned in lambda Charon4A vector. A BglII fragment comprising the 3' end and the adjacent genomic region (total length 3.7 kb) was subcloned in plasmid pUC19 and its restriction map was determined.

[Characteristics of the pH2-42 probe for the D13S25 locus of human chromosome 13: nucleotide sequence, localization, and PCR markers].

The sequence of the HindIII-HindIII fragment of probe pH2-42 of locus D13S25 of human genome is given. Localization of the probe in q14-q21 of human chromosome 13 is confirmed by hybridization in situ. Seven oligonucleotide primers for the polymerase chain reaction are chosen so that amplified products almost completely cover the analyzed sequence.

[Stable maintenance of dicentric mini-chromosomes in CHL4 mutants in yeast].

Earlier we have identified the chl4-1 mutation in a screen for yeast mutants with increased loss of chromosome III and circular artificial minichromosome in mitosis. Mutation in the CHL4 gene leads to a 50-100-fold promotion in the rate of chromosome loss per cell division compared to the isogenic wild type strain. Detailed analysis of behaviour of the circular minichromosome marked by the CUP1 gene has shown that minichromosome nondisjunction (2:0 segregation) leading to an increase in the copy number of minichromosome in part of a cell population is the main reason of minichromosome instability in the mutant.

[CHL15--a new gene controlling the replication of chromosomes in saccharomycetes yeast: cloning, physical mapping, sequencing, and sequence analysis].

We have analyzed the CHL15 gene, earlier identified in a screen for yeast mutants with increased loss of chromosome III and artificial circular and linear chromosomes in mitosis. Mutations in the CHL15 gene lead to a 100-fold increase in the rate of chromosome III loss per cell division and a 200-fold increase in the rate of marker homozygosis on this chromosome by mitotic recombination. Analysis of segregation of artificial circular minichromosome and artificially generated nonessential marker chromosome fragment indicated that sister chromatid loss (1:0 segregation) is a main reason of chromosome destabilization in the chl15-1 mutant.

[son Pseudogenes do not contain five repeating elements of the region of complete tandem repeats present in the homologous sequence of the son gene].

Recently we have published a sequence of the coding region of the son gene, containing at least six areas of the tandem repeats [V.V. Bliskovsky, F.

[The human son gene: the large and small transcripts contains various 5'-terminal sequences].

Human son gene was previously identified by cloning and hybridization to GC-rich rat genomic fragment. After several cycles of human placenta library walking we were able to identify and clone two alternative transcripts of this gene. Recently we have determined nucleotide sequence of small son gene transcript, coding region of which contains four areas of complete tandem repeats.

[cDNA of cattle alpha S1-casein: cloning and nucleotide sequence].

The nucleotide sequence of recombinant plasmids representing a full-size cDNA of cow alpha s1-casein was investigated. The corresponding mRNA consists of 1133 nucleotides except for poly(A) and includes 642 nucleotides of the coding region, 63 nucleotides of 5'- and 428 nucleotides of the 3'-noncoding regions. A comparative analysis of nucleotide sequences of cow alpha s1-casein and guinea pig B-casein showed that the homology in the 5'-nontranslatable region is 90.

[Localization and restriction mapping of the origin of replication of rat liver mitochondrial DNA].

Based on plasmid pCV II, a recombinant comprising the origin of replication of rat liver mitochondrial DNA was obtained. A detailed restriction map of the region based on restrictases Hae III, Hpa II and Hind II was developed. The origin of mitochondrial DNA replication is localized in one of Hind II fragments.