脆性X综合征家系中DXS369和DXS304的多点连锁分析。

Multipoint linkage analysis of DXS369 and DXS304 in fragile X families.

作者信息

van Oost B A, Smits A, Dreesen J C, Smeets D, Perdon L, van Bennekom C A, Dahl N, Bakker E, Oostra B A

机构信息

Department of Human Genetics, University Hospital Nijmegen, The Netherlands.

出版信息

Am J Med Genet. 1991 Feb-Mar;38(2-3):328-31. doi: 10.1002/ajmg.1320380232.

DOI:10.1002/ajmg.1320380232

PMID:2018075

Abstract

Diagnosis of carriers of the fragile-X mental retardation gene is hampered by the paucity of tightly linked DNA markers. Recently, 2 new DNA markers RN1 (DXS369) and U6.2 (DXS304) have become available. Both markers are tightly linked to the fragile-X locus, but their location relative to the fragile site was not known with certainty. We have tested these new markers in a multipoint linkage analysis of 26 fragile-X families typed for DXS105 as a proximal marker and DXS52 as a distal marker. Our results establish the order DXS105-DXS369-fra(X)-DXS304-DXS52, which is in agreement with physical mapping results.

摘要

脆性X智力低下基因携带者的诊断因紧密连锁的DNA标记物匮乏而受阻。最近，两种新的DNA标记物RN1（DXS369）和U6.2（DXS304）已可获取。这两种标记物均与脆性X位点紧密连锁，但它们相对于脆性位点的位置尚不确定。我们在对26个脆性X家系进行的多点连锁分析中测试了这些新标记物，这些家系以DXS105作为近端标记物、DXS52作为远端标记物进行分型。我们的结果确定了顺序为DXS105 - DXS369 - fra(X) - DXS304 - DXS52，这与物理图谱结果一致。