Screening for multiple endocrine neoplasia type 2A with DNA-polymorphism analysis.

Henry Ford Hospital medical journal Pub Date : 1992-01-01
E M Lamothe, S A Narod, S Miller, P J Goodfellow, D E Cole, D Gilchrist, Z Pausova, D Goltzman, G N Hendy
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引用次数: 0

Abstract

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.

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dna多态性分析筛查2A型多发性内分泌瘤。
对2个加拿大大型2A型多发性内分泌肿瘤(MEN 2A)家系的9个10号染色体DNA标记(FNRB、D10S34、D10Z1、MEN203、D10S94、RBP3、D10S15、MBP[48.11]、D10S22)进行分型。这些标记和MEN2A基因(MEN2A)被认为在一个连锁群中,跨度约为15厘米(男性)。MEN203和D10S94与MEN2A紧密相连,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种重组。多个侧翼标记的使用增加了预测性测试的信息量和风险评估的准确性的可能性。我们能够为所有10个有风险的个体分配一个风险估计。
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Extracellular Ca2+ sensing in C-cells and parathyroid cells. Proceedings of the Urban Health Care Symposium II. June 2-4, 1991. Characterization of the clinical features of five families with hereditary primary cutaneous lichen amyloidosis and multiple endocrine neoplasia type 2. Unusual features of multiple endocrine neoplasia. Long-term follow-up in four large MEN 2 families in The Netherlands.
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