Chorea-acanthocytosis: genetic linkage to chromosome 9q21.
Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life. Neurological impairment with acanthocytosis (neuroacanthocytosis) also is seen in abet...
| Main Authors: | , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
1997
|
| _version_ | 1797079176840216576 |
|---|---|
| author | Rubio, J Danek, A Stone, C Chalmers, R Wood, N Verellen, C Ferrer, X Malandrini, A Fabrizi, G Manfredi, M Vance, J Pericak-Vance, M Brown, R Rudolf, G Picard, F Alonso, E Brin, M Németh, A Farrall, M Monaco, A |
| author_facet | Rubio, J Danek, A Stone, C Chalmers, R Wood, N Verellen, C Ferrer, X Malandrini, A Fabrizi, G Manfredi, M Vance, J Pericak-Vance, M Brown, R Rudolf, G Picard, F Alonso, E Brin, M Németh, A Farrall, M Monaco, A |
| author_sort | Rubio, J |
| collection | OXFORD |
| description | Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life. Neurological impairment with acanthocytosis (neuroacanthocytosis) also is seen in abetalipoproteinemia and X-linked McLeod syndrome. Whereas the molecular etiology of McLeod syndrome has been defined (Ho et al. 1994), that of CHAC is still unknown. In the absence of cytogenetic rearrangements, we initiated a genomewide scan for linkage in 11 families, segregating for CHAC, who are of diverse geographical origin. We report here that the disease is linked, in all families, to a 6-cM region of chromosome 9q21 that is flanked by the recombinant markers GATA89a11 and D9S1843. A maximum two-point LOD score of 7.1 (theta = .00) for D9S1867 was achieved, and the linked region has been confirmed by homozygosity-by-descent, in offspring from inbred families. These findings provide strong evidence for the involvement of a single locus for CHAC and are the first step in positional cloning of the disease gene. |
| first_indexed | 2024-03-07T00:42:01Z |
| format | Journal article |
| id | oxford-uuid:835d190d-3949-4b3e-9592-4ced86c3b4d0 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:42:01Z |
| publishDate | 1997 |
| record_format | dspace |
| spelling | oxford-uuid:835d190d-3949-4b3e-9592-4ced86c3b4d02022-03-26T21:43:46ZChorea-acanthocytosis: genetic linkage to chromosome 9q21.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:835d190d-3949-4b3e-9592-4ced86c3b4d0EnglishSymplectic Elements at Oxford1997Rubio, JDanek, AStone, CChalmers, RWood, NVerellen, CFerrer, XMalandrini, AFabrizi, GManfredi, MVance, JPericak-Vance, MBrown, RRudolf, GPicard, FAlonso, EBrin, MNémeth, AFarrall, MMonaco, AChorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life. Neurological impairment with acanthocytosis (neuroacanthocytosis) also is seen in abetalipoproteinemia and X-linked McLeod syndrome. Whereas the molecular etiology of McLeod syndrome has been defined (Ho et al. 1994), that of CHAC is still unknown. In the absence of cytogenetic rearrangements, we initiated a genomewide scan for linkage in 11 families, segregating for CHAC, who are of diverse geographical origin. We report here that the disease is linked, in all families, to a 6-cM region of chromosome 9q21 that is flanked by the recombinant markers GATA89a11 and D9S1843. A maximum two-point LOD score of 7.1 (theta = .00) for D9S1867 was achieved, and the linked region has been confirmed by homozygosity-by-descent, in offspring from inbred families. These findings provide strong evidence for the involvement of a single locus for CHAC and are the first step in positional cloning of the disease gene. |
| spellingShingle | Rubio, J Danek, A Stone, C Chalmers, R Wood, N Verellen, C Ferrer, X Malandrini, A Fabrizi, G Manfredi, M Vance, J Pericak-Vance, M Brown, R Rudolf, G Picard, F Alonso, E Brin, M Németh, A Farrall, M Monaco, A Chorea-acanthocytosis: genetic linkage to chromosome 9q21. |
| title | Chorea-acanthocytosis: genetic linkage to chromosome 9q21. |
| title_full | Chorea-acanthocytosis: genetic linkage to chromosome 9q21. |
| title_fullStr | Chorea-acanthocytosis: genetic linkage to chromosome 9q21. |
| title_full_unstemmed | Chorea-acanthocytosis: genetic linkage to chromosome 9q21. |
| title_short | Chorea-acanthocytosis: genetic linkage to chromosome 9q21. |
| title_sort | chorea acanthocytosis genetic linkage to chromosome 9q21 |
| work_keys_str_mv | AT rubioj choreaacanthocytosisgeneticlinkagetochromosome9q21 AT daneka choreaacanthocytosisgeneticlinkagetochromosome9q21 AT stonec choreaacanthocytosisgeneticlinkagetochromosome9q21 AT chalmersr choreaacanthocytosisgeneticlinkagetochromosome9q21 AT woodn choreaacanthocytosisgeneticlinkagetochromosome9q21 AT verellenc choreaacanthocytosisgeneticlinkagetochromosome9q21 AT ferrerx choreaacanthocytosisgeneticlinkagetochromosome9q21 AT malandrinia choreaacanthocytosisgeneticlinkagetochromosome9q21 AT fabrizig choreaacanthocytosisgeneticlinkagetochromosome9q21 AT manfredim choreaacanthocytosisgeneticlinkagetochromosome9q21 AT vancej choreaacanthocytosisgeneticlinkagetochromosome9q21 AT pericakvancem choreaacanthocytosisgeneticlinkagetochromosome9q21 AT brownr choreaacanthocytosisgeneticlinkagetochromosome9q21 AT rudolfg choreaacanthocytosisgeneticlinkagetochromosome9q21 AT picardf choreaacanthocytosisgeneticlinkagetochromosome9q21 AT alonsoe choreaacanthocytosisgeneticlinkagetochromosome9q21 AT brinm choreaacanthocytosisgeneticlinkagetochromosome9q21 AT nemetha choreaacanthocytosisgeneticlinkagetochromosome9q21 AT farrallm choreaacanthocytosisgeneticlinkagetochromosome9q21 AT monacoa choreaacanthocytosisgeneticlinkagetochromosome9q21 |