Wynik wyszukiwania w bazie Polska Bibliografia Lekarska GBL
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GINDZIEŃSKI
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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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