PRESYMPTOMATIC TESTING USING DNA MARKERS FOR INDIVIDUALS AT RISK FOR FAMILIAL MULTIPLE ENDOCRINE NEOPLASIA-2A

被引：17

作者：

LICHTER, JB

WU, JS

GENEL, M

FLYNN, SD

PAKSTIS, AJ

KIDD, JR

KIDD, KK

机构：

[1] YALE UNIV, SCH MED, DEPT PATHOL, NEW HAVEN, CT 06510 USA

[2] YALE UNIV, SCH MED, DEPT PEDIAT, NEW HAVEN, CT 06510 USA

[3] UNIV CALIF LOS ANGELES, LOS ANGELES CTY HARBOR MED CTR, DIV MED GENET, TORRANCE, CA 90509 USA

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 1992年 / 74卷 / 02期

关键词：

D O I：

10.1210/jc.74.2.368

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The carrier status of 39 at-risk individuals in 6 multiple endocrine neoplasia 2A families was determined using a DNA based test. We were able to calculate a virtual diagnosis (probability > 95%) for 77% of the individuals and a probable diagnosis (probability > 90%) for 90% of the individuals. This study points out some of the problems of specific pedigree structures that can affect the risk calculation. This study further shows that no single test based on either biochemistry, pathology, or genetics can consistently and unambiguously produce a presymptomatic diagnosis. We also describe two specific examples where DNA testing has helped to resolve clinical uncertainties in at-risk individuals.

引用

页码：368 / 373

页数：6