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人类凝血因子VIII基因内的一个内含子区域在Xq28内重复,并且与多态性位点DXS115(767)同源。

An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767).

作者信息

Patterson M, Gitschier J, Bloomfield J, Bell M, Dorkins H, Froster-Iskenius U, Sommer S, Sobell J, Schaid D, Thibodeau S

机构信息

Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, England.

出版信息

Am J Hum Genet. 1989 May;44(5):679-85.

Abstract

The genomic sequences recognized by the anonymous probe 767 (DXS115) are localized to two sites within Xq28. One site lies within intron 22 of the factor VIII gene (FBC). Physical mapping suggests that the second site lies within 1.2 megabases of the F8C gene. The RFLPs detected by 767 are located within the second site. Genetic data suggest that F8C and DXS115 are tightly linked (theta max = .04; Zmax = 8.30). Recombination events in meioses informative for DXS52 (St14), DXS115, and F8C suggest that DXS115 and F8C lie distal to DXS52.

摘要

匿名探针767(DXS115)识别的基因组序列定位于Xq28内的两个位点。一个位点位于凝血因子VIII基因(FBC)的第22内含子内。物理图谱表明,第二个位点位于F8C基因的120万个碱基对范围内。767检测到的限制性片段长度多态性(RFLP)位于第二个位点内。遗传数据表明,F8C和DXS115紧密连锁(最大重组率θ = 0.04;最大连锁值Z = 8.30)。对DXS52(St14)、DXS115和F8C有信息价值的减数分裂中的重组事件表明,DXS115和F8C位于DXS52的远端。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/558a/1715651/9e135648fa92/ajhg00115-0061-a.jpg

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