Autor: Kwiatkowska, J - Katalog OPAC zbiorów

Skocz do pozycji: 1.

Tytuł:: DNA polymorphism in locus D1S80 in Poland. DNA profiling and detection of new alleles by heteroduplex formation between alleles of the same size
Autorzy:: Kwiatkowska, J
Dziechciowska, K
Lisiecka, D
Slomski, R
Powiązania:: https://bibliotekanauki.pl/articles/2046677.pdf
Data publikacji:: 1997
Wydawca:: Polska Akademia Nauk. Czytelnia Czasopism PAN
Tematy:: DNA sequence
polymorphism
Polska
hybridization
Polish population
heteroduplex formation
DNA polymorphism
same size
polymerase chain reaction
allele
distribution
Opis:: We have analysed allele distribution at the highly polymorphic variable number of tandem repeats (VNTR) locus D1S80 (pMCT118) in the Polish population using the, polymerase chain reaction (PCR) technique. Characteristics of the D1S80 locus makes it a very useful marker for population genetic research, genetic linkage studies and forensic identification of individuals. During our routine application of the D1S80 marker to paternity testing in several cases of homozygosity detected by polyacrylamide gel electrophoresis, heteroduplex formation for alleles 18 and 24 was also observed. Direct sequencing of PCR products revealed that alleles 18 and 24 of locus D1S80 actually represent a mixture composed of different sequences. Our observations indicate that identification of some 18 and 24 VNTR alleles based only on size estimated in electrophoretic analyses could lead to errors in paternity testing and DNA profiling.
Źródło:: Journal of Applied Genetics; 1997, 38, 3; 335-341
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