Dryja T P, Morrow J F, Rapaport J M
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.
Hum Genet. 1997 Sep;100(3-4):446-9. doi: 10.1007/s004390050531.
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.
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源染色体上，但这种偏差的程度尚未测定。我们评估了49例有新种系突变的病例，发现其中40例（82%）的突变出现在父源等位基因上。我们还评估了48例可能有体细胞初始突变的病例；在这组病例中，初始突变出现在父源或母源染色体上的频率大致相等。有新父源种系突变的孩子的父亲的平均年龄与有新母源种系突变或体细胞初始突变的孩子的父亲的平均年龄之间没有统计学上的显著差异。将这些数据与其他研究小组先前报告的数据相结合，父源等位基因上出现的新种系突变的比例为85%（基于72例；95%置信区间 = 76 - 93%）。这个数字在一些视网膜母细胞瘤家族的遗传咨询中可能会有用。
