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精子分型能够精确测量人类3号染色体短臂上D3S2和D3S3之间的重组率。

Sperm typing allows accurate measurement of the recombination fraction between D3S2 and D3S3 on the short arm of human chromosome 3.

作者信息

Hubert R, Stanton V P, Aburatani H, Warren J, Li H, Housman D E, Arnheim N

机构信息

Molecular Biology Section, University of Southern California, Los Angeles 90089-1340.

出版信息

Genomics. 1992 Apr;12(4):683-7. doi: 10.1016/0888-7543(92)90294-3.

Abstract

The interval between the D3S2 and D3S3 loci on human chromosome 3p is a frequent site of deletions in a number of different cancers and contains the most common fragile site in man. Both loci have been physically mapped to 3p but because heterozygosity for D3S3 is so infrequent, recombination between them could not be determined accurately by using family studies. Sperm typing can measure recombination between DNA polymorphisms even in a single individual and thus can make use of polymorphisms with a low PIC. The recombination fraction between D3S2 and D3S3 was estimated to be 0.28 based on analyzing 189 and 77 sperm from two doubly heterozygous donors, respectively. These results demonstrate one of the ways in which sperm typing can complement pedigree analysis in constructing genetic maps.

摘要

人类3号染色体短臂上D3S2和D3S3基因座之间的区域,在多种不同癌症中是常见的缺失位点,并且包含人类最常见的脆性位点。两个基因座都已在物理上定位到3p,但由于D3S3的杂合性非常罕见,因此无法通过家系研究准确确定它们之间的重组情况。精子分型即使在单个个体中也能测量DNA多态性之间的重组,因此可以利用PIC值低的多态性。基于分别分析来自两名双重杂合供体的189个和77个精子,估计D3S2和D3S3之间的重组率为0.28。这些结果证明了精子分型在构建遗传图谱中补充系谱分析的一种方式。

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