Optimal Selection of Sib Pairs from Random Samples for Linkage Analysis of a QTL Using the EDAC Test

Percentages of extremely concordant and extremely discordant sib pairs are calculated that maximize the power to detect a quantitative trait locus (QTL) under a variety of circumstances using the EDAC test. We assume a large fixed number of randomly sampled sib pairs, such as one would hope to find in the large twin registries, and limited resources to genotype a certain number of selected sib pairs. Our aim is to investigate whether optimal selection can be achieved when prior knowledge concerning the QTL gene action, QTL allele frequency, QTL effect size, and background (residual) sib correlation is limited or absent. To this end we calculate the best selection percentages for a large number of models, which differ in QTL gene action allele frequency, background correlation, and QTL effect size. By averaging these percentages over gene action, over allele frequency, over gene action, and over allele frequencies, we arrive at general recommendations concerning selection percentages. The soundness of these recommendations is subsequently in a number of test cases.     

Pregnancy outcome in Factor XI deficiency: incidence of miscarriage, antenatal and postnatal haemorrhage in 33 women with Factor XI deficiency

Pregnancy complications in women with Factor XI deficiency were assessed in this retrospective analysis. All nonnulliparous women registered with Factor XI deficiency in the East Midlands region were included. Each woman was classified into 'bleeder' or 'nonbleeder'. Rates of antenatal and postnatal bleeding and miscarriage rate were recorded. A total of 33 women had 105 pregnancies. Pregnancy and delivery was uneventful in 70% of the cases. Postpartum haemorrhage (PPH) appears increased in women with a 'bleeding' phenotype with a highly significant difference between 'bleeders' and 'nonbleeders' (relative risk [RR] 7.2; CI 1.99–25.9). Miscarriage rate appeared unchanged. We conclude that PPH is increased in a subgroup with a bleeding phenotype. Larger studies are needed to define the underlying factors.     

Progression of amiodarone induced cataracts

Amiodarone hydrochloride is a potent antiarrhythmic agent recently approved for use by the Food and Drug Administration. Anterior subcapsular lens opacities were observed in seven of fourteen patients treated with moderate to high doses of amiodarone at the Veterans Administration Medical Center in San Francisco in 1982. The present report summarizes the present status of these same fourteen patients ten years later. Anterior subcapsular lens opacities developed or progressed in all patients continuing treatment with this antiarrhythmic agent during the following ten year interval. Although Snellen visual acuities are not decreased, subtle visual impairment is present as measured by contrast sensitivity measurements with and without glare. This decrease in visual acuity is not a contraindication for therapy with this potentially life saving drug.     

荧光原位杂交技术分析人结肠菌群方法研究

建立荧光原位杂交技术分析人体内结肠菌群的方法。取受试者新鲜粪便 ,选用 5种特异性的 16SrRNA寡核苷酸探针 ,检测粪便样本收集后的保存时间、温度 ,离心条件及样本固定液存放时间对杂交计数结果的影响。结果建立最佳实验条件为 :粪便样本收集后应尽快在 4℃下保存 ,放置时间不要超过 12小时即作处理 ;样本的适宜离心条件为 70 0g 2分钟 ;样本用多聚甲醛固定后在 - 80℃下存放时间不要超过 5个月。该方法具有较好的稳定性 ,可以有效地检出个体之间结肠菌群的差异。