Avtor/Urednik		Kopač, Matjaž
Naslov		Povezava polimorfizma gena za citokrom P450 (CYP1A1) z dovzetnostjo za pljučnega raka pri Slovencih
Prevedeni naslov		Relationship between cytochrome P450 (CYP1A1) gene polymorphism and lung cancer susceptibility in Slovene population
Tip		članek
Vir		Med Razgl
Vol. in št.		Letnik 37, št. 1
Leto izdaje		1998
Obseg		str. 17-31
Jezik		slo
Abstrakt		Two polymorphic sites of the CYP1A1 gene, coding for cytochrome P4501 A1 enzyme, have been discovered so far. One involves the 7th exon of the coding region; a nucleotide change leads to amino acid replacement in the heme binding region of cytochrome P4501A1 (polymorphism IIeNal). Another site is in the 3',-flanking region of the gene, and results in the presence of a new restriction site for the Msp I enzyme (polymorphism Msp I). This study investigated the role of both polymorphisms in the development of lung cancer caused by chemical carcinogenesis. We analysed 156 samples obtained from patients with lung cancer, and 102 samples from healthy individuals. The method I used was based on amplification of the polymorphic part of the gene by polymerase chain reaction. To detect the polymorphism Msp I the products of reaction were analysed using the restriction and electrophoresis on agarose gel, while the presence of polymorphism Ile/Val was determined using specific primers. For the identification of the reaction product electrophoresis on agarose gel was employed. A statistically significant association between polymorphism Msp I and polymorphism Ile/Val was found in both lung cancer patients and healthy controls. There was no statistically significant difference in the incidence of both polymorphism forms between lung cancer patients and controls or between patients with different histological subtypes of lung cancer.
Izvleček		Poznamo dve polimorfni mesti gena CYPlAl, ki kodira encim citokrom P4501A1. Eno od mest se nahaja v 7. eksonu kodirajoče regije gena, ki vodi v zamenjavo aminokisline izolevcin (Ile) z aminokislino valin (Val) v vezavnem encimskem mestu za hem (polimorfizem Ile/Val). Drugo polimorfno mesto se nahaja v območju 3' za kodirajočo regijo gena, česar posledica je novo restrikcijsko mesto za encim Msp I (polimorfizem Msp I). Z raziskavo sem skušal ugotoviti stopnjo povezanosti v pojavljanju obeh oblik polimorfizma gena CYPl A1 ter določiti in primerjati frekvenco različnih vrst genotipov v populaciji bolnikov s pljučnim rakom in v populaciji zdravih preiskovancev. Proučeval sem 156 vzorcev krvi, odvzetih bolnikom s pljučnim rakom, in 102 vzorca krvi, odvzeta zdravim preiskovancem. Pomnoževal sem polimorfni del gena CYP1 A1 s polimerazno verižno reakcijo. Za odkrivanje polimorfizma Msp I sem produkte reakcije preveril z restrikcijsko analizo in elektroforezo na agaroznem gelu. Za ugotavljanje polimorfizma Ile/Val sem uporabil alelno specifične startne verige in z elektroforezo na agaroznem gelu iskal produkt reakcije. Ugotovil sem statistično pomembno stopnjo povezanosti med pojavljanjem obeh oblik polimorfizma, kar velja za bolnike s pljučnim rakom in tudi za zdrave preiskovance. Nisem pa našel statistično pomembnih razlik v frekvenci pojavljanja posameznih oblik polimorfizma med obravnavano obolelo in zdravo populacijo, niti ne med bolniki s histološko različnimi podtipi pljučnega raka.
Deskriptorji		LUNG NEOPLASMS CYTOCHROME P-450 CYP1A1 POLYMORPHISM (GENETICS) POLYMERASE CHAIN REACTION