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本文对上海市10年来(1972~1981)经临床及病理复查核实的108例单双眼视网膜母细胞瘤(Rb)病例作回顾性家系调查和遗传流行病学的分析。作者计算了上海市本病活产儿发病比(1/23,000)基因频率(2.3×10~(-5))、基因突变率(1.2×10~(-5),其中生殖细胞突变率7.69×10~(-6),体细胞者为4.34×10~(-6))和外显率(87~100%)等数据。并讨论了Rb的遗传方式问题。
In this paper, retrospective pedigree and genetic epidemiological analysis of 108 cases of single and double retinaloblastoma (Rb) confirmed by clinical and pathological examination in Shanghai during the past 10 years (1972 ~ 1981) were performed. The authors calculated the frequency of gene mutation (2.3 × 10 -5) and the gene mutation rate (1.2 × 10 -5) in live births in Shanghai with the germ cell mutation rate of 7.69 × 10 ~ (-6), somatic cells were 4.34 × 10 -6 (-6)) and penetrance (87 ~ 100%). And discussed the genetic mode of Rb.