Xq27 - q28区域的基因定位：用于脆性X综合征和B型血友病家系诊断应用的新型限制性片段长度多态性（RFLP）标记

Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

作者信息

Arveiler B, Oberlé I, Vincent A, Hofker M H, Pearson P L, Mandel J L

机构信息

Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, U. 184 de l'INSERM, Strasbourg, France.

出版信息

Am J Hum Genet. 1988 Feb;42(2):380-9.

PMID:2893549

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715257/

Abstract

We have characterized and genetically mapped new polymorphic DNA markers in the q27-q28 region of the X chromosome. New informative RFLPs have been found for DXS105, DXS115, and DXS152. In particular, heterozygosity at the DXS105 locus has been increased from 25% to 52%. We have shown that DXS105 and DXS152 are contained within a 40-kb region. A multipoint linkage analysis was performed in fragile-X families and in large normal families from the Centre d'Etudes du Polymorphisme Humain (CEPH). This has allowed us to establish the order centromere-DXS144-DXS51-DXS102-F9-DXS105-FRAX A-(F8, DXS15, DXS52, DXS115). DXS102 is close to the hemophilia-B locus (z[theta] = 13.6 at theta = .02) and might thus be used as an alternative probe for diagnosis in Hemophila-B families not informative for intragenic RFLPs. DXS105 is 8% recombination closer to the fragile-X locus than F9 (z[theta] = 14.6 at theta = .08 for the F9-DXS105 linkage) and should thus be a better marker for analysis of fragile-X families. However, the DXS105 locus appears to be still loosely linked to the fragile-X locus in some families. The multipoint estimation for recombination between DXS105 and FRAXA is .16 in our set of data. Our data indicate that the region responsible for the heterogeneity in recombination between F9 and the fragile-X locus is within the DXS105-FRAXA interval.

摘要

我们已经对X染色体q27 - q28区域的新的多态性DNA标记进行了特征分析和基因定位。已发现DXS105、DXS115和DXS152的新的信息丰富的限制性片段长度多态性（RFLP）。特别是，DXS105位点的杂合度已从25%提高到52%。我们已经证明DXS105和DXS152包含在一个40千碱基对（kb）的区域内。在脆性X家族和来自人类多态性研究中心（CEPH）的大型正常家族中进行了多点连锁分析。这使我们能够确定着丝粒 - DXS144 - DXS51 - DXS102 - F9 - DXS105 - FRAX A -（F8、DXS15、DXS52、DXS115）的顺序。DXS102靠近血友病B位点（在θ = 0.02时，z[θ] = 13.6），因此可作为在基因内RFLP无信息的血友病B家族中进行诊断的替代探针。DXS105与脆性X位点的重组距离比F9近8%（对于F9 - DXS105连锁，在θ = 0.08时，z[θ] = 14.6），因此应该是分析脆性X家族的更好标记。然而，在一些家族中，DXS105位点似乎仍与脆性X位点松散连锁。在我们的数据集中，DXS105与FRAXA之间重组的多点估计值为0.16。我们的数据表明，F9与脆性X位点之间重组异质性的区域在DXS105 - FRAXA区间内。