CONSANGUINITY SANS-REPROCHE
CONSANGUINITY SANS-REPROCHE
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DOI：
10.1007/bf00202413
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发表时间：
1991-01-01
期刊：
影响因子：
5.3
通讯作者：
CAMPAGNE, JGV
中科院分区：
文献类型：
--
作者：
TENKATE, LP;SCHEFFER, H;CAMPAGNE, JGV
在一个有两名囊性纤维化（CF）患者和近亲父母的家庭中，DNA分析表明，儿童CF不是由血统纯合性引起的，因为涉及两种不同的突变。 一个公式给出了计算的概率，父母的血缘关系，如果它存在的话，是因果关系的常染色体隐性遗传病的存在，在受影响的儿童。
In a family with two cystic fibrosis (CF) patients and consanguineous parents, DNA analysis showed that the CF in the children was not caused by homozygosity by descent, since two different mutations were involved. A formula is given for calculating the probability that parental consanguinity, if it exists, is causally related to the existence of an autosomal recessive disease in affected children.