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001-es BibID:	BIBFORM036811
Első szerző:	Póka Róbert (szülész-nőgyógyász, klinikai onkológus)
Cím:	A családi anamnézis és a Leiden-mutáció vizsgálatának összehasonlítása fogamzásgátlót szedni kívánók körében / Póka Róbert, Balogh István, Ajzner Éva
Dátum:	1999
Megjegyzések:	Family history of thromboembolic disease and the result of genetic testing for the presence of Leiden-mutation were compared in two-hundred and forty women seeking contraceptive advice. A fragment of the factor V gene enclosing the possible site of the Leiden-mutation was amplified by PCR and the products separated by gel electrophoresis. Data of thromboembolic history were collected by self-administered structured questionnaire. Familial thrombosis (two or more cases of deep vein thrombosis in the family) occurred in cases (1,7 per cent) and none of these carried the Leiden-mutation. At least one event of thromboembolic disese was recorded (positive history) in fifty women. Among the 38 women with positive history and wild-type genetic rest result four had more than one relative with thrombosis, and in further 4 cases the proband herself had suffered an episode of deep vein thrombosis. Among the 12 cases of heterozygote carriers one had had thrombosis. Though positive family history had a 0,24 predictive value in forcasting genetic status, testing for the Leiden-mutation gave an almost three times more accurate prediction than family history. The results suggest that genetic testing for Leiden-mutation improves the selection of patients with with positive family history who are truely at risk of thromboembolic side-effects if put on on combined oral contraceptives. Family history on its own is a highly sensitive method of selecting the patients who are at an increased risk of thromboembolic side-effects, but suffers from a low positive predictive value.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok magyar nyelvű folyóiratközlemény hazai lapban egyetemen (Magyarországon) készült közlemény
Megjelenés:	Magyar Nőorvosok Lapja. - 62 : 1 (1999), p. 11-15. -
További szerzők:	Balogh István (1972-) (molekuláris biológus, genetikus) Ajzner Éva (1968-) (laboratóriumi szakorvos)
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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