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交叉衍生的遗传图谱和重组率:参照拟议的13q14视网膜母细胞瘤基因座的13号染色体

Chiasma derived genetic maps and recombination fractions: chromosome 13 with reference to the proposed 13q14 retinoblastoma locus.

作者信息

Palmer R W, Hultén M A

出版信息

J Med Genet. 1982 Apr;19(2):125-9. doi: 10.1136/jmg.19.2.125.

Abstract

Provided that there is no chromatid interference, no movement of chiasmata, and no discrepancies between meiotic and mitotic chromosome lengths, then genetic maps and recombination fractions may be directly derived from our meiotic chiasma distribution data. This is illustrated by male chiasma derived genetic lengths and recombination fractions along chromosome 13. The recombination fraction between 13p fluorescent markers and the proposed retinoblastoma locus at 13q14 is estimated at 0.27 to 0.37 and preliminary female chiasma studies suggest a recombination fraction of 0.5 between these two sites. Therefore, it seems unlikely that 13p fluorescent markers may be of any practical help in identifying retinoblastoma gene carriers. This is also borne out by the discordant segregation which has been found in six out of seven retinoblastoma families, which gives a calculated recombination fraction of 0.39 (SE 0.15), not significantly different from 0.5.

摘要

如果不存在染色单体干涉、交叉点不移动,并且减数分裂和有丝分裂染色体长度之间没有差异,那么遗传图谱和重组率可以直接从我们的减数分裂交叉分布数据中得出。这在沿13号染色体的男性交叉衍生的遗传长度和重组率中得到了说明。13p荧光标记与位于13q14的拟议视网膜母细胞瘤基因座之间的重组率估计为0.27至0.37,初步的女性交叉研究表明这两个位点之间的重组率为0.5。因此,13p荧光标记在识别视网膜母细胞瘤基因携带者方面似乎不太可能有任何实际帮助。这也得到了七个视网膜母细胞瘤家族中六个家族发现的不一致分离的支持,计算出的重组率为0.39(标准误0.15),与0.5无显著差异。

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本文引用的文献

4
Family studies on nucleoside phosphorylase and the short arm of chromosome 14.
Ann Hum Genet. 1981 Jul;45(3):253-60. doi: 10.1111/j.1469-1809.1981.tb00336.x.
6
A meiotic linkage map of the human male.
Cytogenet Cell Genet. 1978;22(1-6):698-701. doi: 10.1159/000131056.
7
The use and limitations of chiasma scoring with reference to human genetic mapping.
Cytogenet Cell Genet. 1978;22(1-6):37-58. doi: 10.1159/000130917.
9
Retinoblastoma and subband deletion of chromosome 13.视网膜母细胞瘤与13号染色体亚带缺失
Am J Dis Child. 1978 Feb;132(2):161-3. doi: 10.1001/archpedi.1978.02120270059012.
10
Genetics of retinoblastoma.视网膜母细胞瘤的遗传学
Hum Genet. 1979 Nov 1;52(1):1-54. doi: 10.1007/BF00284597.

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