Curnow R N
Department of Applied Statistics, University of Reading, United Kingdom.
Am J Med Genet. 1994 Aug 1;52(1):108-14. doi: 10.1002/ajmg.1320520121.
The number of recessive diseases, such as cystic fibrosis, in which some but not all of the mutations causing the disease can be detected using genetic probes, is certain to increase. For counselling purposes, the probability that a consultand known not to have a detectable mutation is nevertheless a carrier, needs to be calculated with as much accuracy as possible. This paper describes a program, available from the author, written specifically to make these calculations. As an example, results are presented for cystic fibrosis, assuming an incidence of 1 in 2,400 and that 80% of the mutations, being delta F508 mutations, are detectable. Numerical results are given when information may be available on the parents, one or two sibs and one or two children of the consultand. When test results are available on the children, the test status of the spouse of the consultand is relevant and may also be available. Risk calculations are also presented when an aunt (uncle) of the consultand has cystic fibrosis. Finally, disease and carrier risks are given for the child of first cousins, neither of whom has a detectable mutation.
诸如囊性纤维化这类隐性疾病的数量肯定会增加，在这些疾病中，使用基因探针可以检测出部分但并非全部导致该疾病的突变。出于咨询目的，需要尽可能精确地计算出咨询对象虽未检测到可检测突变但仍是携带者的概率。本文描述了一个程序，作者可提供该程序，它是专门为进行这些计算而编写的。作为一个例子，给出了囊性纤维化的结果，假设发病率为1/2400，且80%的突变为ΔF508突变，这些突变是可检测的。当咨询对象的父母、一个或两个兄弟姐妹以及一个或两个孩子的信息可用时，会给出数值结果。当孩子的检测结果可用时，咨询对象配偶的检测状态是相关的，也可能是可用的。当咨询对象的姑姑（叔叔）患有囊性纤维化时，也会给出风险计算结果。最后，给出了双方均未检测到可检测突变的一级表亲所生孩子的患病风险和携带者风险。
