. "4"^^ . . "373873" . . "Jednonukleotidov\u00E1 substituce c.645+32C>T v genu APC je nepatogenn\u00EDm polymorfismem s v\u00FDskytem p\u0159ibli\u017En\u011B u 16 % \u010Desk\u00E9 populace" . . "Familial adenomatous polyposis is an autosomal dominant disease characterised by predisposition to colon polyposis and colorectal cancer and caused by germline mutations in the APC gene. The aim of the study was to establish the frequency of c.645+32C>T substitution in intron 5 of the APC gene in patients with multiple colon polyposis and in the general population and to determine if this substitution is a nonpathogenic polymorphism or a pathogenic mutation associated with multiple polyposis coli. The frequency of c.645+32C>T substitution in the APC gene was established in 170 patients with the clinical phenotype of familial adenomatous polyposis or its attenuated form using denaturating gradient gel electrophoresis and direct sequencing. We tested a population of 200 non-cancer persons using allelic specific polymerase chain reaction. The c.645+32C>T substitution was detected in 27 of 170 patients with multiple colon polyposis (i.e. 15.9%). The substitution was found in 32 of 200 cont"@en . . "\u0160tekrov\u00E1, J." . "Famili\u00E1rn\u00ED adenomat\u00F3zn\u00ED polyp\u00F3za je autozom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dn\u00E9 onemocn\u011Bn\u00ED charakterizovan\u00E9 predispozic\u00ED ke vzniku polyp\u016F v tlust\u00E9m st\u0159ev\u011B a v rektu a ke kolorekt\u00E1ln\u00EDmu karcinomu. P\u0159\u00ED\u010Dinou onemocn\u011Bn\u00ED jsou z\u00E1rode\u010Dn\u00E9 mutace v genu APC. C\u00EDlem studie bylo stanovit frekvenci jednonukleotidov\u00E9 substituce c.645+32C>T v intronu 5 genu APC u pacient\u016F s mnoho\u010Detnou st\u0159evn\u00ED polyp\u00F3zou a v obecn\u00E9 populaci a pokusit se objasnit, zda je tato substituce nepatogenn\u00EDm polymorfismem (tj. popula\u010Dn\u00ED variantou) nebo onemocn\u011Bn\u00ED zp\u016Fsobuj\u00EDc\u00ED mutac\u00ED. Frekvence substituce c.645+32C>T v genu APC byla studov\u00E1na v souboru 170 pacient\u016F s fenotypem famili\u00E1rn\u00ED adenomat\u00F3zn\u00ED polyp\u00F3zy nebo jej\u00ED atenuovan\u00E9 formy metodou denatura\u010Dn\u00ED gradientov\u00E9 gelov\u00E9 elektrofor\u00E9zy a p\u0159\u00EDmou sekvenac\u00ED. D\u00E1le byla frekvence t\u00E9to substituce vy\u0161et\u0159ena u souboru 200 neonkologick\u00FDch pacient\u016F pomoc\u00ED metody alelick\u00E9 specifick\u00E9 polymer\u00E1zov\u00E9 \u0159et\u011Bzov\u00E9 reakce. Substituce c.645+32C>T byla zji\u0161t\u011Bna u 27 ze 170 pacient\u016F s mnoho\u010Detnou st\u0159evn\u00ED polyp\u00F3zou" . . "Drob\u010Dinsk\u00E1, P." . . "147" . . . "\u0160ilh\u00E1nov\u00E1, Eva" . "3"^^ . . "RIV/00843989:_____/08:00100050!RIV09-MSM-00843989" . "Plevov\u00E1, Pavl\u00EDna" . . . "5" . "Jednonukleotidov\u00E1 substituce c.645+32C>T v genu APC je nepatogenn\u00EDm polymorfismem s v\u00FDskytem p\u0159ibli\u017En\u011B u 16 % \u010Desk\u00E9 populace"@cs . . . . "Famili\u00E1rn\u00ED adenomat\u00F3zn\u00ED polyp\u00F3za je autozom\u00E1ln\u011B dominantn\u011B d\u011Bdi\u010Dn\u00E9 onemocn\u011Bn\u00ED charakterizovan\u00E9 predispozic\u00ED ke vzniku polyp\u016F v tlust\u00E9m st\u0159ev\u011B a v rektu a ke kolorekt\u00E1ln\u00EDmu karcinomu. P\u0159\u00ED\u010Dinou onemocn\u011Bn\u00ED jsou z\u00E1rode\u010Dn\u00E9 mutace v genu APC. C\u00EDlem studie bylo stanovit frekvenci jednonukleotidov\u00E9 substituce c.645+32C>T v intronu 5 genu APC u pacient\u016F s mnoho\u010Detnou st\u0159evn\u00ED polyp\u00F3zou a v obecn\u00E9 populaci a pokusit se objasnit, zda je tato substituce nepatogenn\u00EDm polymorfismem (tj. popula\u010Dn\u00ED variantou) nebo onemocn\u011Bn\u00ED zp\u016Fsobuj\u00EDc\u00ED mutac\u00ED. Frekvence substituce c.645+32C>T v genu APC byla studov\u00E1na v souboru 170 pacient\u016F s fenotypem famili\u00E1rn\u00ED adenomat\u00F3zn\u00ED polyp\u00F3zy nebo jej\u00ED atenuovan\u00E9 formy metodou denatura\u010Dn\u00ED gradientov\u00E9 gelov\u00E9 elektrofor\u00E9zy a p\u0159\u00EDmou sekvenac\u00ED. D\u00E1le byla frekvence t\u00E9to substituce vy\u0161et\u0159ena u souboru 200 neonkologick\u00FDch pacient\u016F pomoc\u00ED metody alelick\u00E9 specifick\u00E9 polymer\u00E1zov\u00E9 \u0159et\u011Bzov\u00E9 reakce. Substituce c.645+32C>T byla zji\u0161t\u011Bna u 27 ze 170 pacient\u016F s mnoho\u010Detnou st\u0159evn\u00ED polyp\u00F3zou"@cs . "Jednonukleotidov\u00E1 substituce c.645+32C>T v genu APC je nepatogenn\u00EDm polymorfismem s v\u00FDskytem p\u0159ibli\u017En\u011B u 16 % \u010Desk\u00E9 populace" . "[37AA2EC76B4A]" . "0008-7335" . . "RIV/00843989:_____/08:00100050" . "\u010Casopis l\u00E9ka\u0159\u016F \u010Desk\u00FDch" . "Single Nucleotide c.645+32C>T Substitution in the APC Gene is a Non-pathogenic Polymorphism Appearing in about 16 % of the Czech Population"@en . "Jednonukleotidov\u00E1 substituce c.645+32C>T v genu APC je nepatogenn\u00EDm polymorfismem s v\u00FDskytem p\u0159ibli\u017En\u011B u 16 % \u010Desk\u00E9 populace"@cs . "P(NR9092), Z(MSM0021620808)" . . . "Single Nucleotide c.645+32C>T Substitution in the APC Gene is a Non-pathogenic Polymorphism Appearing in about 16 % of the Czech Population"@en . . "CZ - \u010Cesk\u00E1 republika" . "2"^^ . "familial adenomatous polyposis; APC gene; mutation; polymorphism"@en .