Autor: Plawski, A - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: Homology of DNA sequences encompassing the malignant hyperthermia mutation site in the human, porcine, and zebrine ryrl gene
Autorzy:: Gronek, P
Slomski, R.
Lisiecka, D.
Plawski, A.
Nuc, K.
Banasiewicz, T.
Powiązania:: https://bibliotekanauki.pl/articles/2044249.pdf
Data publikacji:: 1998
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: homology
Equus grevyi
Sus scrofa
ryanodine receptor
chromosome
polymorphism
gene
porcine gene
man
mutation
polymerase chain reaction
DNA
malignant hyperthermia
skeletal muscle
Opis:: The RYR1 gene encoding the Ca²⁺ channel of sarcoplasmic reticulum of human skeletal muscle has been cloned and its nucleotide sequence has been determined earlier. We have used the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP), and sequencing analysis for human, porcine (Sus scrofa), and zebrine (Equus grevyi) ryanodine receptor (ryrl) gene. The fragment of exon 17 of the ryr1 gene was characterized by a high homology between all the analysed species (substitution of a nucleotide is underlined): porcine ryr1 ¹⁸³⁴GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁹ human RYR1 ¹⁸³¹GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁶ zebrine ryr1 GTG GCC GTG CGC TCC AAC CAA GAC CT.
Źródło:: Journal of Applied Genetics; 1998, 39, 3; 275-279
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 2.

Tytuł:: Familial polyposis coli - inducing mutations in APC gene in Poland
Autorzy:: Pawlak, A L
Plawski, A
Smoczkiewicz, P
Kwiatkowska, J
Meissner, W
Krokowicz, P
West, S P
Powiązania:: https://bibliotekanauki.pl/articles/2046600.pdf
Data publikacji:: 1997
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: familial adenomatous polyposis
protein truncation test
Polish population
mutation
polymerase chain reaction
heteroduplex analysis
Opis:: Screening for molecular changes within the adenomatous polyposis coli (APC) gene, exons 11-14 and the 5’ half of exon 15, encompassing the mutation cluster region within exon 15, was performed in 30 patients with Familial Polyposis Coli (FAP). All patients were studied by heteroduplex analysis (HA) and single strand conformation polymorphism (SSCP) and molecular changes were found in 7 cases. Protein truncation test (PTT) has been performed in 17 cases in which mutations have not been found earlier, and shortening of protein product was noted in 2 cases. In three cases common deletion of 5 bp at codon 1309 and in one 5 bp deletion at codon 1061 were found. In other cases the molecular changes were demonstrated as heteroduplexes in exon 14 (1 patient), in segments E and F (one patient each) of exon 15, and in two cases the heteroduplexes were within the overlapping sequences of segments E/F and F/G of exon 15, respectively. In families where the molecular changes were found by HA, 7 persons at high risk for FAP were found and advised to undergo regular endoscopic examinations. In three persons at risk the transfer of mutation was excluded.
Źródło:: Journal of Applied Genetics; 1997, 38, 1; 77-85
1234-1983
Pojawia się w:: Journal of Applied Genetics
Dostawca treści:: Biblioteka Nauki

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