Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis.

The detection of carriers of the X-linked disorder hypohidrotic ectodermal dysplasia is problematic because of random X-inactivation; the diagnosis was previously based on the observation of subtle defects in ectodermal structures in at-risk females. Linkage studies have recently mapped hypohidrotic ectodermal dysplasia to the region Xq11-q21.1. We assessed the improvement in carrier detection by the method of linkage analysis, in which restriction fragment length polymorphisms were used as markers, in 72 at-risk female members of 29 families. Carriers analyses were based on pedigree information, dental examination of at-risk females (phenotype), and DNA analyses at seven linked marker loci. Linkage analysis based on restriction fragment length polymorphisms significantly improved risk estimates over those based on phenotype and pedigree alone. When all available information was combined, 85% (61/72) of the at-risk females had final risks of less than 5% or greater than 95%, and 68% (49/72) had risks less than 1% or greater than 99%. A diagnosis of hypohidrotic ectodermal dysplasia was also excluded (97.5% probability) by DNA and linkage analyses from a sample of cord blood from an at-risk male; a similar approach can be taken for prenatal diagnosis of the disorder.

[Comparison of 4 methods of determining the incidence of induced abortion]. / Comparacion de curatro metodos para determinar la frecuencia del aborto provocado.

PIP: 4 methods of assessing the incidence of induced abortion were tested on a group of married women aged 15-49 years selected from rural and urban municipalities in Taiwan. Approximately 2000 women were interviewed and observed every 6 weeks during 9 series, and half of these were given pregnancy tests at each interview. Another 2000 women were interviewed only once on their knowledge, attitude, and practice of reproductive events, with abortion included directly for about half and included vai a randomized response technique for the other half. 3 of the methods produced estimates that 13-14% of the women had undergone induced abortions, while the randomized response technique produced the significantly higher estimate of 28%. All of the methods were considered feasible, but modifications were recommended for the randomized response techniques when it is used in poorly educated populations. The use of shorter intervals with sounding when pregnancy tests are positive might improve the detection of recent abortions. An independent test of validity of verbal responses to questions about abortion experience conducted on 99 women known to have recently undergone induced abortions and 96 controls led to serious underestimates of the true number even using the randomized response technique.^ieng