Validation of the determination of deltaF508 mutations of the cystic fibrosis gene in over 11 000 mouthwashes.

Mouthwashes can be used as a DNA resource for mutation detection and, because collection and DNA isolation is simple and cheap, they could in particular, be used for large numbers of samples. To determine the failure rate (the proportion of mouth samples in which no PCR product was obtained) and the specificity of buccal epithelial cell mutation detection in large numbers of samples, we collected mouthwashes and blood samples from 11 413 blood donors and tested the mouthwashes for the deltaF508 mutation, which has an estimated frequency Of 75% among cystic fibrosis chromosomes in The Netherlands. Blood samples were tested for the deltaF508 mutations only if the mutation was identified in the mouthwash or in the case of a failure to obtain PCR products. The sensitivity of the test was determined in mouthwashes of 75 deltaF508 carriers known from earlier family studies. These samples were offered blindly between the mouthwashes of the blood donors. Both specificity and sensitivity of the mouthwash procedure were 100%. The overall failure rate was 5.6%. This large figure was caused mainly by insufficient rinsing of the mouth in one particular blood bank. Exclusion of the results of this blood bank reduced the failure rate to 1.8%. Our results also confirmed that for a large number of samples the mouthwash procedure is suitable for mutation detection and, with proper instructions, can be used in community screening.

Informing blood donors about AIDS and risk factors: reactions to information provided in a regional blood bank in the Netherlands.

To safeguard blood transfusion therapy, anti-HIV testing has been standard in routine blood bank practice in the Netherlands since mid-1985. Despite the availability of serological testing for HIV infection, donor deferral remains of prime importance because of the period between HIV-infection and development of antibodies (the 'window phase'). Therefore blood and plasma donors are informed about AIDS and risk factors. Reactions of donors to such information were investigated in a regional blood bank in the Netherlands (1985-1987). Although there seems to be a good understanding of the necessity of reading information about AIDS, personal motives (not belonging to a risk group, having read information before, etc.) resulted in insufficient attention to the written information (a circular letter) by more than one third of respondents. We recommend that information on risk factors is given by a personal approach (i.e. interview) and by emphasizing the personal responsibility of donors for the safety of the blood supply used in blood transfusion therapy.