Wynik wyszukiwania w bazie Polska Bibliografia Lekarska GBL

Zapytanie: GINDZIEŃSKI
Liczba odnalezionych rekordów: 2



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Tytuł oryginału: A novel Gly to Arg substitution at position 388 of the ŕ1 chain of type I collagen in lethal form of osteogenesis imperfecta.
Autorzy: [Gajko]-Galicka Anna, Wołczyński Sławomir, Leśniewicz Ryszard, Chyczewski Lech, Gindzieński Andrzej
Źródło: Acta Bioch. Pol. 2002: 49 (2) s.443-450, il., bibliogr. s. 449-450
Sygnatura GBL: 303,116

Hasła klasyfikacyjne GBL:
  • traumatologia i ortopedia
  • genetyka

    Typ dokumentu:
  • tytuł obcojęzyczny
  • praca kazuistyczna
  • praca epidemiologiczna

    Wskaźnik treści:
  • płód
  • noworodki
  • dorośli 19-44 r.ż.
  • płeć męska
  • płeć żeńska
  • ludzie

    Streszczenie angielskie: Cultured skin fibroblasts from a proband with a lethal form of osteogenesis imperfecta produce two forms of type I collagen chains, with normal and delayed electrophoretic migration; collagen of the proband's motehr was normal. Peptide mapping experiments localized the structural defect in the proband to ŕ1(I) CB8 peptide in which residues 123 to 402 are spaned. Direct sequencing of amplified cDNA covering this region revealed a G to A single base change in one allele of the ŕ1(I) chain, that converted glycine 388 to arginine. Restriction enzyme digestion of the RT-PCR product was consistent with a heterozygous COL1A1 mutation. The novel mutation conforms to the linear gradient of clinical severity for the ŕ1(I) chain and results in reduced thermal stability by 3řC and intracellular retention of abnormal molecules.


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    Tytuł oryginału: Direct sequencing of PCR products for mutation detection in osteogenesis imperfecta.
    Autorzy: Galicka Anna, Gindzieński Andrzej
    Źródło: J. Appl. Genet. 2002: 43 (3) s.365-369, il., tab., bibliogr. [7] poz.
    Sygnatura GBL: 305,055

    Hasła klasyfikacyjne GBL:
  • genetyka
  • traumatologia i ortopedia

    Typ dokumentu:
  • komunikat
  • tytuł obcojęzyczny

    Streszczenie angielskie: This work present a short and simple method for mutation detection in type I collagen genes, based on the direct sequencing of single-stranded DNA. The sequencing of type I collagen genes is complicated and difficult because of their large size and highly repertitive and GC-rich coding regions. Although many techniques have been developed for mutation screening in osteogenesis imperfecta (OI), they represent differentdegrees of sensivity and are difficult to reproduce and too expensive for aplication in each laboratory. The method described here is short, easy and especially useful for sequencing of collagen genes in OI cases, in which the region with a suspected structurl defect is localized by collagen analysis.

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