Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26–q27
I Oberlé, G Camerino, K Wrogemann, B Arveiler… - Human genetics, 1987 - Springer
I Oberlé, G Camerino, K Wrogemann, B Arveiler, A Hanauer, E Raimondi, JL Mandel
Human genetics, 1987•SpringerThe q26–q28 region of the human X chromosome contains several important disease loci,
including the locus for the fragile X mental retardation syndrome. We have characterized
new polymorphic DNA markers useful for the genetic mapping of this region. They include a
new BclI restriction fragment length polymorphism (RFLP) detected by the probe St14-1
(DXS52) and which may therefore be of diagnostic use in hemophilia A families. A linkage
analysis was performed in fragile X families and in large normal families from the Centre …
including the locus for the fragile X mental retardation syndrome. We have characterized
new polymorphic DNA markers useful for the genetic mapping of this region. They include a
new BclI restriction fragment length polymorphism (RFLP) detected by the probe St14-1
(DXS52) and which may therefore be of diagnostic use in hemophilia A families. A linkage
analysis was performed in fragile X families and in large normal families from the Centre …
Summary
The q26–q28 region of the human X chromosome contains several important disease loci, including the locus for the fragile X mental retardation syndrome. We have characterized new polymorphic DNA markers useful for the genetic mapping of this region. They include a new BclI restriction fragment length polymorphism (RFLP) detected by the probe St14-1 (DXS52) and which may therefore be of diagnostic use in hemophilia A families. A linkage analysis was performed in fragile X families and in large normal families from the Centre d'Etude du Polymorphisme Humain (CEPH) by using seven polymorphic loci located in Xq26-q28. This multipoint linkage study allowed us to establish the order centromere-DXS100-DXS86-DXS144-DXS51-F9-FRAX-(DXS52-DXS15). Together with other studies, our results define a cluster of nine loci that are located in Xq26-q27 and map within a 10 to 15 centimorgan region. This contrasts with the paucity of markers (other than the fragile X locus) between the F9 gene in q27 and the G6PD cluster in q28, which are separated by about 30% recombination.
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