Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.
The microtubule-associated protein 1B (MAP1B) locus has been mapped in close proximity to spinal muscular atrophy (SMA) on chromosome 5q13. We have identified a second microsatellite within a MAP1B intron, which increases the heterozygosity of this locus to 94%. Two unambiguous recombination events...
| Main Authors: | , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
1992
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| _version_ | 1826268853252915200 |
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| author | Brzustowicz, L Kleyn, P Boyce, F Lien, L Monaco, A Penchaszadeh, G Das, K Wang, C Munsat, T Ott, J |
| author_facet | Brzustowicz, L Kleyn, P Boyce, F Lien, L Monaco, A Penchaszadeh, G Das, K Wang, C Munsat, T Ott, J |
| author_sort | Brzustowicz, L |
| collection | OXFORD |
| description | The microtubule-associated protein 1B (MAP1B) locus has been mapped in close proximity to spinal muscular atrophy (SMA) on chromosome 5q13. We have identified a second microsatellite within a MAP1B intron, which increases the heterozygosity of this locus to 94%. Two unambiguous recombination events establish MAP1B as a closely linked, distal flanking marker for the disease locus, while a third recombinant establishes D5S6 as the proximal flanking marker. The combination of key recombinants and linkage analysis place the SMA gene in an approximately 2-cM interval between loci D5S6 and MAP1B. Physical mapping and cloning locate MAP1B within 250 kb of locus D5S112. The identification and characterization of a highly polymorphic gene locus tightly linked to SMA will facilitate isolation of the disease gene, evaluation of heterogeneity, and development of a prenatal test for SMA. |
| first_indexed | 2024-03-06T21:15:57Z |
| format | Journal article |
| id | oxford-uuid:3fca553e-5701-4244-bfd6-4d5766d653a9 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T21:15:57Z |
| publishDate | 1992 |
| record_format | dspace |
| spelling | oxford-uuid:3fca553e-5701-4244-bfd6-4d5766d653a92022-03-26T14:34:14ZFine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:3fca553e-5701-4244-bfd6-4d5766d653a9EnglishSymplectic Elements at Oxford1992Brzustowicz, LKleyn, PBoyce, FLien, LMonaco, APenchaszadeh, GDas, KWang, CMunsat, TOtt, JThe microtubule-associated protein 1B (MAP1B) locus has been mapped in close proximity to spinal muscular atrophy (SMA) on chromosome 5q13. We have identified a second microsatellite within a MAP1B intron, which increases the heterozygosity of this locus to 94%. Two unambiguous recombination events establish MAP1B as a closely linked, distal flanking marker for the disease locus, while a third recombinant establishes D5S6 as the proximal flanking marker. The combination of key recombinants and linkage analysis place the SMA gene in an approximately 2-cM interval between loci D5S6 and MAP1B. Physical mapping and cloning locate MAP1B within 250 kb of locus D5S112. The identification and characterization of a highly polymorphic gene locus tightly linked to SMA will facilitate isolation of the disease gene, evaluation of heterogeneity, and development of a prenatal test for SMA. |
| spellingShingle | Brzustowicz, L Kleyn, P Boyce, F Lien, L Monaco, A Penchaszadeh, G Das, K Wang, C Munsat, T Ott, J Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. |
| title | Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. |
| title_full | Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. |
| title_fullStr | Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. |
| title_full_unstemmed | Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. |
| title_short | Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6. |
| title_sort | fine mapping of the spinal muscular atrophy locus to a region flanked by map1b and d5s6 |
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