Mathew C G, Easton D F, Nakamura Y, Ponder B A
Department of Pathology, University of Cambridge, Sutton, Surrey, UK.
Lancet. 1991 Jan 5;337(8732):7-11. doi: 10.1016/0140-6736(91)93329-8.
Seven DNA markers from the pericentromeric region of chromosome 10 were tested for linkage to MEN 2A in a panel of 17 families. Four of the markers proved to be tightly linked and therefore suitable for predictive testing. The markers were used to estimate carrier risks for individuals who had a negative biochemical screening test for thyroid C-cell hyperplasia. The analysis substantially altered the carrier risks of most of these individuals, which suggests that typing with DNA markers should be introduced into the screening programme of MEN 2A families. Accurate prenatal diagnosis for this disorder is also now possible.
在一个由17个家庭组成的小组中,对来自10号染色体着丝粒周围区域的7个DNA标记进行了与2A型多发性内分泌腺瘤(MEN 2A)的连锁测试。其中4个标记被证明紧密连锁,因此适用于预测性检测。这些标记被用于估计那些甲状腺C细胞增生生化筛查测试呈阴性的个体的携带者风险。该分析显著改变了这些个体中大多数人的携带者风险,这表明应将DNA标记分型引入MEN 2A家庭的筛查项目中。现在,针对这种疾病的准确产前诊断也成为可能。