DXS105、DXS98与脆性X位点侧翼的其他多态性DNA标记之间的连锁关系。

Linkage relationships between DXS105, DXS98, and other polymorphic DNA markers flanking the fragile X locus.

作者信息

Carpenter N J, Thibodeau S N, Brown W T

机构信息

Chapman Research Institute of Medical Genetics, Children's Medical Center, Tulsa, Oklahoma 74135.

出版信息

Am J Med Genet. 1991 Feb-Mar;38(2-3):349-53. doi: 10.1002/ajmg.1320380237.

DOI:10.1002/ajmg.1320380237

PMID:1673310

Abstract

We report on linkage data between DXS105, DXS98, the locus for the fragile X syndrome (FRAXA), and 3 other polymorphic loci that flank the FRAXA locus. An analysis was undertaken to determine the relative positions of DXS105 and DXS98 and to test the assignment of DXS105 to a location proximal and closely linked to FRAXA. In this study of fragile X fra(X) syndrome families, the DXS105 locus was calculated to be proximal to FRAXA with a maximum lod score of 10.36 at theta = 0.08. DXS105 was also shown to be closely linked to the gene for factor IX (F9)(Z = 11.84 at theta = 0.08) and to DXS98 (Z = 4.91 at theta = 0.04). The order of the loci proximal to FRAXA is most likely centromere-factor IX-DXS105-DXS98-FRAXA-telomere. The use of DXS105 and DXS98 in clinical investigations should significantly increase the accuracy of risk assessment in informative fragile X families.

摘要

我们报告了DXS105、DXS98、脆性X综合征（FRAXA）基因座以及位于FRAXA基因座两侧的其他3个多态性基因座之间的连锁数据。进行了一项分析，以确定DXS105和DXS98的相对位置，并测试将DXS105定位到FRAXA近端且紧密连锁的位置。在这项针对脆性X fra(X)综合征家族的研究中，计算得出DXS105基因座位于FRAXA近端，在θ = 0.08时最大lod分数为10.36。还表明DXS105与因子IX（F9）基因紧密连锁（在θ = 0.08时Z = 11.84），并与DXS98紧密连锁（在θ = 0.04时Z = 4.91）。FRAXA近端基因座的顺序很可能是着丝粒 - 因子IX - DXS105 - DXS98 - FRAXA - 端粒。在临床研究中使用DXS105和DXS98应能显著提高信息丰富的脆性X家族风险评估的准确性。