Refinement of linkage of human severe combined immunodeficiency (SCIDXI) to polymorphic markers in Xq13
- Children's Hospital of Philadelphia, PA (United States) Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)
- St. Jude Children's Research Hospital and Univ. of Tennessee School of Medicine, Memphis (United States)
- Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)
The most common form of human severe combined immunodeficiency (SCID) is inherited as an X-linked recessive genetic defect, MIM 300400. The disease locus, SCIDX1, has previously been placed in Xq13.1-q21.1 by demonstration of linkage to polymorphic markers between DXS159 and DXS3 and by exclusion from interstitial deletions of Xq21.1-q21.3. The authors report an extension of previous linkage studies, with new markers and a total of 25 SCIDX1 families including female carriers identified by nonrandom X chromosome inactivation in their T lymphocytes. SCIDX1 was nonrecombinant with DXS441, with a lod score of 17.96. Linkage relationships of new markers in the SCIDX1 families were consistent with the linkage map generated in the families of the Centre d'Etude du Polymorphisms Humain (CEPH) and with available physical map data. The most likely locus order was DXS1-(DXS159,DXS153)-DXS106-DXS132-DXS453-(SCIDX1,PGK1, DXS325,DXS347,DXS441)-DXS447-DXS72-DXYS1X-DXS3. The SCIDX1 region now spans approximately 10 Mb of DNA in Xq13; this narrowed genetic localization will assist efforts to identify gene candidates and will improve genetic management for families with SCID. 25 refs., 3 figs., 2 tabs.
- OSTI ID:
- 5957497
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 53:1; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13
DXS106 and DXSW559 flank the X-linked dystonia-parkisonism syndrome locus (DYT3)