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人类8号染色体短臂14个多态性位点的初步遗传连锁图谱。

A primary genetic linkage map of 14 polymorphic loci for the short arm of human chromosome 8.

作者信息

Emi M, Fujiwara Y, Nakamura Y

机构信息

Division of Biochemistry, Cancer Institute, Tokyo, Japan.

出版信息

Genomics. 1993 Mar;15(3):530-4. doi: 10.1006/geno.1993.1105.

Abstract

A genetic linkage map of markers for the short arm of human chromosome 8 has been constructed with 14 polymorphic DNA markers on the basis of genotypes obtained in 40 CEPH reference families. This unbroken map spans 45 cM in males and 79 cM in females. The 14 markers include three genes, MSR, LPL, and NEFL, and one anonymous DNA segment that were previously assigned to chromosome 8. The other 10 marker had been isolated from a chromosome 8-specific cosmid library and physically localized to chromosomal bands by fluorescence in situ hybridization. The order of loci determined by genetic linkage was consistent with their physical locations. This map will facilitate efficient linkage studies of human genetic diseases that may be segregating on chromosome 8p and will provide anchor points for development of high-resolution maps for this chromosomal region.

摘要

基于在40个CEPH参考家系中获得的基因型,利用14个多态性DNA标记构建了人类8号染色体短臂的遗传连锁图谱。这一连续的图谱在男性中跨度为45厘摩,在女性中跨度为79厘摩。14个标记包括三个基因,即MSR、LPL和NEFL,以及一个先前已定位到8号染色体的匿名DNA片段。其他10个标记是从一个8号染色体特异性黏粒文库中分离出来的,并通过荧光原位杂交在染色体带上进行了物理定位。通过遗传连锁确定的基因座顺序与其物理位置一致。该图谱将有助于对可能在8号染色体短臂上分离的人类遗传疾病进行有效的连锁研究,并为该染色体区域高分辨率图谱的开发提供锚定标记。

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