LINKAGE OF NONSPECIFIC X-LINKED MENTAL-RETARDATION TO XQ21.31

作者：JEDELE KB; MICHELS VV; SCHAID DJ; SCHOWALTER KV; THIBODEAU SN

来源：American Journal of Medical Genetics, 1992, 43(1-2): 436-442.

DOI：10.1002/ajmg.1320430166

• X-LINKED MENTAL RETARDATION
• LINKAGE
• DXYS1
• MRX

Mental retardation unassociated with the Fragile X syndrome accounts for up to 60% of patients with X-linked mental retardation. In this investigation, we report on a family with mild non-specific X-linked mental retardation (MRX) without other apparent phenotypic abnormalities. Linkage analysis on 27 relatives using 18 polymorphic markers spanning the X-chromosome demonstrated close linkage to DXYS1 with a peak LOD score of 2.14 at a theta of 0. Numerous families with various types of MRX have now been studied by other investigators using molecular genetic techniques. In addition to the family described in this report, a number of these have demonstrated linkage to the DXYS1 locus. These data suggest that a gene for mental retardation may exist in the region of DXYS1. Alternatively, this area of the X-chromosome may harbor multiple different but closely linked genes which cause the various types of MRX.

• 出版日期1992-4-15