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    Wyświetlanie 1-3 z 3
    Tytuł:
    Matrix metalloproteinase-2 C-1306T promoter polymorphism and breast cancer risk in the Saudi population
    Autorzy:
    Saeed, Hesham
    Alanazi, Mohammad
    Alshahrani, Omair
    Parine, Narasimha
    Alabdulkarim, Huda
    Shalaby, Manal
    Powiązania:
    https://bibliotekanauki.pl/articles/1039541.pdf
    Data publikacji:
    2013
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    breast cancer
    matrix metalloproteinases
    single nucleotide polymorphism
    TaqMan Allele Discrimination assay
    Opis:
    Matrix metalloproteinase-2 (MMP-2) is an enzyme with proteolytic activity against matrix proteins, particularly basement membrane constituents. A single nucleotide polymorphism (SNP) at -1306, which disrupts a Sp1-type promoter site (CCACC box), displayed a strikingly lower promoter activity with the T allele. In the present study, we investigate whether this MMP-2 SNP is associated with susceptibility to breast cancer in the Saudi population. Ninety breast cancer patients and 92 age matched controls were included in this study. TaqMan Allele Discrimination assay and DNA sequencing techniques were used for genotyping. The results showed that, the frequency of MMP-2 CC wild genotype was lower in breast cancer patients when compared with healthy controls (0.65 versus 0.79). The homozygous CC (OR=2, χ2=5.36, p=0.02) and heterozygous CT (OR=1.98, χ2=4.1, p=0.04) showing significantly high risk of breast cancer in the investigated group. In conclusion our data suggest that the MMP-2 C-1306T polymorphism may be associated with increased breast cancer risk in the Saudi population.
    Źródło:
    Acta Biochimica Polonica; 2013, 60, 3; 405-409
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Preliminary result of a genetic polymorphism of β-lactoglobulin gene and the phylogenetic study of ten balkan and central european indigenous sheep breeds
    Autorzy:
    Kusza, Szilvia
    Sziszkosz, Nikolett
    Nagy, Krisztina
    Masala, Amela
    Kukovics, Sándor
    András, Jávor
    Powiązania:
    https://bibliotekanauki.pl/articles/1039143.pdf
    Data publikacji:
    2015
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    Tsigai group
    Zackel sheep
    β-LG
    allele frequencies
    genetic relationship
    sequencing
    Opis:
    Genetic polymorphism at the β-lactoglobulin (β-LG) loci in indigenous sheep breeds (Tsigai, Racka, Pramenka) was determined. Altogether 904 sheep were genotyped for the presence of the A, B and C alleles of β-lactoglobulin by PCR-RFLP. The AB genotype was the most common and the β-lactoglobulin A was the most frequent in the Cokanski Tsigai (54%), while the B allele was the most common in the Rusty and the Zomborski Tsigai (59%, 60%). The C allele was found only in one individual from Serbian Cokanski flock. These results differ from those that refer to other native sheep breeds. In the Cokanski Tsigai, deviation from the Hardy-Weinberg equilibrium was detected. Genetic relationship based on β-lactoglobulin polymorphism was the closest between the Rusty and the Cokanski Tsigai among the studied populations and between sheep and goat among the other ruminants. Part of the promoter region (254 bp) of β-LG in studied sheep breeds were sequenced in order to identify polymorphisms, analyze haplotypes, and phylogenetic relationship among them. Sequencing analysis and alignment of the obtained sequences showed one haplotype. Analysis of more samples and longer parts of the promoter region of β-LG are needed to reconstruct a phylogenetic tree.
    Źródło:
    Acta Biochimica Polonica; 2015, 62, 1; 109-112
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
    Tytuł:
    Germline mutations in the BRCA1 gene predisposing to breast and ovarian cancers in Upper Silesia population.
    Autorzy:
    Grzybowska, Ewa
    Siemińska, Marzena
    Zientek, Helena
    Kalinowska, Ewa
    Michalska, Jadwiga
    Utracka-Hutka, Beata
    Rogozińska-Szczepka, Jadwiga
    Kaźmierczak-Maciejewska, Maria
    Powiązania:
    https://bibliotekanauki.pl/articles/1043761.pdf
    Data publikacji:
    2002
    Wydawca:
    Polskie Towarzystwo Biochemiczne
    Tematy:
    germline mutations
    allele-specific amplification PCR
    hereditary predisposition
    BRCA1 and BRCA2 genes
    ovary cancer
    breast cancer
    Opis:
    Germline mutations in the BRCA1 or BRCA2 genes predispose their carriers to breast or/and ovary cancers during their lifetime. The most frequent mutations: 5382insC, 185delAG, C61G and 4153delA in BRCA1, and 6174delT and 9631delC in BRCA2 were studied in a group of 148 probands admitted for genetic counseling, using allele-specific amplification (ASA) PCR test. Fifteen carriers of three different mutations: 5382insC, 185delAG and C61G in BRCA1 were found. Two families carried the 185delAG mutation and additional two C61G in BRCA1. Nobody carried the mutation 4153delA in BRCA1 nor 6174delT or 9631delC in BRCA2. Most of the carriers of a germline mutation were observed among the patients who developed bilateral breast cancer (17%). The lowest frequency of the germline mutations was found in the healthy persons who had two or more relatives affected with breast or ovarian cancer.
    Źródło:
    Acta Biochimica Polonica; 2002, 49, 2; 351-356
    0001-527X
    Pojawia się w:
    Acta Biochimica Polonica
    Dostawca treści:
    Biblioteka Nauki
    Artykuł
      Wyświetlanie 1-3 z 3

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