Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene
Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene
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DOI：
10.1007/s004390050531
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发表时间：
1997-09-01
期刊：
影响因子：
5.3
通讯作者：
Rapaport, JM
中科院分区：
文献类型：
--
作者：
Dryja, TP;Morrow, JF;Rapaport, JM
已知人类视网膜母细胞瘤基因中的新种系突变优先出现在父系衍生的染色体上，但这种偏差的程度尚未测量。我们评估了 49 例携带新种系突变的病例，发现 40 例 (82%) 突变出现在父系衍生等位基因上。我们还评估了 48 例可能具有体细胞初始突变的病例；在这一组中，最初的突变发生在父本或母本染色体上，频率大致相同。具有新的父系种系突变的儿童的父亲的平均年龄与具有新的母系种系突变或体细胞初始突变的儿童的父亲的平均年龄没有统计学上的显着差异。将数据与其他小组之前报告的数据相结合。父系衍生等位基因产生新种系突变的比例为 85%（基于 72 个病例；95% 置信区间为 76-93%）。该数字可用于某些视网膜母细胞瘤家族的遗传咨询。
New germline mutations in the human retinoblastoma gene are known to arise preferentially on paternally derived chromosomes, but the magnitude of that bias has not been measured. We evaluated 49 cases with a new germline mutation and found that in 40 cases (82%) the mutation arose on the paternally derived allele. We also evaluated 48 cases likely to have a somatic initial mutation; in this group the initial mutation arose on paternal or maternal chromosomes with approximately equal frequency. There was no statistically significant difference in the average age of fathers of children with new paternal germline mutations from the average age of fathers of children with new maternal germline mutations or somatic initial mutations. Combining the data with that from previous reports from other groups. the proportion of new germline mutations arising on a paternally derived allele is 85% (based on 72 cases; 95% confidence interval 76-93%). This number can be useful in the genetic counseling of some families with retinoblastoma.