人类男性重组的个体差异。
Individual variation in recombination among human males.
作者信息
Yu J, Lazzeroni L, Qin J, Huang M M, Navidi W, Erlich H, Arnheim N
机构信息
Molecular Biology Program, University of Southern California, Los Angeles 90089-1340, USA.
出版信息
Am J Hum Genet. 1996 Dec;59(6):1186-92.
Abstract
Studies of recombination between the markers D6S291 and D6S109 in individuals by sperm typing provide direct evidence for significant variation in recombination among humans. A statistically significant difference in the recombination fraction (range 5.1%-11.2%) was detected among five donors. This variation could reflect polymorphisms in genes affecting recombination or in chromosome structure. Ignoring this variability in studies designed to examine the relationship between physical and genetic distances could lead to incorrect inferences. Individual variation in recombination makes it difficult to predict the recombination fraction for an interval in any particular individual. This could be important in certain genetic counseling situations.
摘要
通过精子分型对个体中标记物D6S291和D6S109之间的重组进行研究，为人类重组存在显著差异提供了直接证据。在五个供体中检测到重组率存在统计学上的显著差异（范围为5.1%-11.2%）。这种变异可能反映了影响重组的基因或染色体结构中的多态性。在旨在研究物理距离与遗传距离之间关系的研究中忽略这种变异性可能会导致错误的推断。重组的个体差异使得难以预测任何特定个体中某一区间的重组率。这在某些遗传咨询情况下可能很重要。
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本文引用的文献
1
Recombination fractions in the HLA system based on the data set 'provinces Françaises': indications of haplotype-specific recombination rates.
Eur J Immunogenet. 1994 Feb;21(1):33-43. doi: 10.1111/j.1744-313x.1994.tb00174.x.
2
Multipoint mapping calculations for sperm-typing data.精子分型数据的多点定位计算
Am J Hum Genet. 1994 Sep;55(3):431-6.
3
4
Genetic mapping of F13A to BTA23 by sperm typing: difference in recombination rate between bulls in the DYA-PRL interval.
Genomics. 1995 May 1;27(1):113-8. doi: 10.1006/geno.1995.1012.
5
Allele-dependent recombination frequency: homology requirement in meiotic recombination at the hot spot in the mouse major histocompatibility complex.等位基因依赖性重组频率：小鼠主要组织相容性复合体热点区域减数分裂重组中的同源性要求
Genomics. 1995 May 20;27(2):298-305. doi: 10.1006/geno.1995.1046.
6
How is the Human Genome Project doing, and what have we learned so far?人类基因组计划进展如何，到目前为止我们了解到了什么？
Proc Natl Acad Sci U S A. 1995 Nov 21;92(24):10841-8. doi: 10.1073/pnas.92.24.10841.
7
Autosomal linkage between the Gm and Pi loci in man.人类中Gm和Pi基因座之间的常染色体连锁
Ann Hum Genet. 1972 Apr;35(4):393-9.
8
Further studies on bivalent chiasma frequency in human males with normal karyotypes.关于正常核型男性二价体交叉频率的进一步研究。
Ann Hum Genet. 1985 Jul;49(3):189-201. doi: 10.1111/j.1469-1809.1985.tb01693.x.
9
A genetic linkage map of the human genome.人类基因组的遗传连锁图谱。
Cell. 1987 Oct 23;51(2):319-37. doi: 10.1016/0092-8674(87)90158-9.
10
Amplification and analysis of DNA sequences in single human sperm and diploid cells.单个人类精子和二倍体细胞中DNA序列的扩增与分析。
Nature. 1988 Sep 29;335(6189):414-7. doi: 10.1038/335414a0.
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