通过DNA多态性分析筛查2A型多发性内分泌腺瘤病
Screening for multiple endocrine neoplasia type 2A with DNA-polymorphism analysis.
作者信息
Lamothe E M, Narod S A, Miller S, Goodfellow P J, Cole D E, Gilchrist D, Pausova Z, Goltzman D, Hendy G N
机构信息
Centre for Human Genetics, Royal Victoria Hospital, McGill University, Montreal, Quebec, Canada.
出版信息
Henry Ford Hosp Med J. 1992;40(3-4):224-6.
Nine chromosome 10 DNA markers (FNRB, D10S34, D10Z1, MEN203, D10S94, RBP3, D10S15, MBP [48.11], D10S22) were typed in two large Canadian pedigrees with multiple endocrine neoplasia type 2A (MEN 2A). These markers and the gene for MEN 2A (MEN2A) are believed to be in one linkage group spanning approximately 15 cM (male). MEN203 and D10S94 were informative and tightly linked to MEN2A with no recombinants observed in 26 meiotic events. D10S15 (MCK2), widely used in DNA genotyping predictions, demonstrated two recombinants in these two families. The use of multiple flanking markers increases both the likelihood of informativeness and the accuracy of risk assessments for predictive testing. We were able to assign a risk estimate for all 10 at-risk individuals.
在两个患有2A型多发性内分泌腺瘤（MEN 2A）的加拿大大家系中，对9个10号染色体DNA标记（FNRB、D10S34、D10Z1、MEN203、D10S94、RBP3、D10S15、MBP [48.11]、D10S22）进行了分型。这些标记与2A型多发性内分泌腺瘤（MEN2A）基因被认为位于一个跨度约15厘摩（男性）的连锁群中。MEN203和D10S94具有信息性，且与MEN2A紧密连锁，在26次减数分裂事件中未观察到重组。广泛用于DNA基因分型预测的D10S15（MCK2）在这两个家族中显示出两个重组体。使用多个侧翼标记增加了信息性的可能性以及预测性检测风险评估的准确性。我们能够为所有10名有风险的个体确定风险估计值。
Zotero 插件