COUNSELING UNDER GENETIC-HETEROGENEITY - A PRACTICAL APPROACH

被引：0

作者：

NAROD, S ^{[1
]}

机构：

[1] INT AGCY RES CANC, MECHANISMS CARCINOGENESIS UNIT, F-69372 Lyon, FRANCE

来源：

CLINICAL GENETICS | 1991年 / 39卷 / 02期

关键词：

COUNSELING; GENETIC HETEROGENEITY; RISK;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary diseases due to mutation at different gene loci may be indistinguishable phenotypically. In these situations genetic risk predictions using polymorphic markers may be hampered if an individual family is not sufficiently informative to permit it to be assigned to one or the other linkage group. To provide the most useful estimates of risk, the probability of linkage to a particular chromosome region should be determined prior to calculating risk estimates using the marker system. The probability can be calculated directly using the lod score generated for the family. The individual carrier risk is then the average of the carrier risks determined for linkage to different genetic loci, weighted by the probability of linkage to each group. Several examples are provided.

引用

页码：125 / 131

页数：7

共 35 条

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