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Literature DB >> 1539593

High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.

K E Morrison¹, R J Daniels, G K Suthers, G A Flynn, M J Francis, V J Buckle, K E Davies.

Abstract

Although autosomal recessive spinal muscular atrophy (SMA) has been mapped to chromosome 5q12-q13, there is for this region no genetic map based on highly informative markers. In this study we present the mapping of two previously reported microsatellite markers in 40 CEPH and 31 SMA pedigrees. We also describe the isolation of a new microsatellite marker at the D5S112 locus. The most likely order of markers (with recombination fractions given in parentheses) is 5cen-D5S6-(.02)-D5S125-(.04)-(JK53CA1/2,D5S11 2)-(.04)-D5S39-qter. The relative order of D5S6, D5S112, and D5S39 was confirmed by in situ hybridization. Multipoint linkage analysis in 31 SMA families indicates that the SMA locus lies in the 6-cM interval between D5S6 and JK53CA1/2, D5S112.

Entities: Disease

Mesh：

Substances：

Year: 1992 PMID： 1539593 PMCID： PMC1684291

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

15 in total

1. A YAC contig across the fragile X site defines the region of fragility.

Authors: M C Hirst; K Rack; Y Nakahori; A Roche; M V Bell; G Flynn; Z Christadoulou; R N MacKinnon; M Francis; A J Littler
Journal: Nucleic Acids Res Date: 1991-06-25 Impact factor: 16.971

2. Two microsatellite polymorphisms at the D5S39 locus.

Authors: B S Mankoo; R Sherrington; A De La Concha; G Kalsi; D Curtis; G Melmer; H M Gurling
Journal: Nucleic Acids Res Date: 1991-04-25 Impact factor: 16.971

3. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.

Authors: L M Brzustowicz; T Lehner; L H Castilla; G K Penchaszadeh; K C Wilhelmsen; R Daniels; K E Davies; M Leppert; F Ziter; D Wood
Journal: Nature Date: 1990-04-05 Impact factor: 49.962

4. Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources.

Authors: D L Nelson; S A Ledbetter; L Corbo; M F Victoria; R Ramírez-Solis; T D Webster; D H Ledbetter; C T Caskey
Journal: Proc Natl Acad Sci U S A Date: 1989-09 Impact factor: 11.205

5. Construction of multilocus genetic linkage maps in humans.

Authors: E S Lander; P Green
Journal: Proc Natl Acad Sci U S A Date: 1987-04 Impact factor: 11.205

6. Molecular heterogeneity of the fragile X syndrome.

Authors: Y Nakahori; S J Knight; J Holland; C Schwartz; A Roche; J Tarleton; S Wong; T J Flint; U Froster-Iskenius; D Bentley
Journal: Nucleic Acids Res Date: 1991-08-25 Impact factor: 16.971

7. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors: G M Lathrop; J M Lalouel; C Julier; J Ott
Journal: Am J Hum Genet Date: 1985-05 Impact factor: 11.025

8. Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms.

Authors: J L Weber
Journal: Genomics Date: 1990-08 Impact factor: 5.736

9. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.

Authors: T C Gilliam; L M Brzustowicz; L H Castilla; T Lehner; G K Penchaszadeh; R J Daniels; B C Byth; J Knowles; J E Hislop; Y Shapira
Journal: Nature Date: 1990-06-28 Impact factor: 49.962

10. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.

Authors: J Melki; P Sheth; S Abdelhak; P Burlet; M F Bachelot; M G Lathrop; J Frezal; A Munnich
Journal: Lancet Date: 1990-08-04 Impact factor: 79.321

10 in total

10. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis.

Authors: C Brahe; I Velonà; G van der Steege; S Zappata; A Y van de Veen; J Osinga; C M Tops; R Fodde; P M Khan; C H Buys
Journal: Hum Genet Date: 1994-05 Impact factor: 4.132

10 in total

High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.

1. A YAC contig across the fragile X site defines the region of fragility.

2. Two microsatellite polymorphisms at the D5S39 locus.

3. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.

4. Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources.

5. Construction of multilocus genetic linkage maps in humans.

6. Molecular heterogeneity of the fragile X syndrome.

7. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

8. Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms.

9. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.

10. Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.

1. Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.

2. Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.

3. Linkage mapping of the spinal muscular atrophy gene.

4. Apparent SMA I unlinked to 5q.

5. Association between Ag1-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy.

6. Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.

7. Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.

8. Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA).

9. Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

10. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis.