Improved predictive testing for Huntington disease by using three linked DNA markers.
Improved predictive testing for Huntington disease by using three linked DNA markers.
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通过使用三个连锁 DNA 标记改进了亨廷顿病的预测测试。
DOI：
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发表时间：
1988
影响因子：
9.8
通讯作者：
M. Bloch
中科院分区：
文献类型：
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作者：
M. Hayden;C. Robbins;D. Allard;J. Haines;S. Fox;J. Wasmuth;M. Fahy;M. Bloch
85名有亨廷顿病（HD）风险的人参加了一个预测性测试试点项目。通过使用连接的DNA探针确定了这些候选人中的41个的测试信息。其中9人（21.9%）由于无法获得关键家庭亲属的DNA而被排除在测试之外。所有三个DNA标记（D4S10，D4S62和D4S95）的纯合性没有发现在任何受影响的父母。在41名考生中，只有一名（2%）考生的成绩不准确。结果已经给了20人，其中12人（60%）收到风险降低，8人（40%）收到风险增加的突变基因遗传HD。三个DNA标记的组合使用显着增加了家庭结构的信息量，因此，现在大约75%的要求预测性检测的人可以对遗传风险的估计进行一些改变。
Eighty-five persons at risk for Huntington disease (HD) have enrolled in a predictive-testing pilot program. Informativeness of the test has been determined for 41 of these candidates by using linked DNA probes. Nine (21.9%) of these persons have been excluded from the test as a result of the unavailability of DNA from crucial family relatives. Homozygosity for all of the three DNA markers (D4S10, D4S62, and D4S95) was not found in any affected parent. Only one (2%) of the 41 test candidates has had an uninformative result. Results have been given to 20 persons, of whom 12 (60%) received a decreased risk and eight (40%) received an increased risk of having inherited the mutant gene for HD. The combined use of three DNA markers significantly increases the informativeness of family structures such that some change in the estimation of genetic risk is now possible for approximately 75% of all persons who request predictive testing.
影响因子：
4
作者：
Lindsay A. Farrer;Richard H. Myers;Adrienne Cupples;A. P. M. Conneally
通讯作者：
Lindsay A. Farrer;Richard H. Myers;Adrienne Cupples;A. P. M. Conneally
使用连锁 DNA 标记对亨廷顿病进行预测测试。
DOI：
10.1056/nejm198803033180903
发表时间：
1988
期刊：
The New England journal of medicine
影响因子：
--
作者：
Meissen,GJ;Myers,RH;Mastromauro,CA;Koroshetz,WJ;Klinger,KW;Farrer,LA;Watkins,PA;Gusella,JF;Bird,ED;Martin,JB
通讯作者：
Martin,JB