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Article

Linkage analysis of spinal muscular atrophy.

Genomics - 1 Feb 1992

Daniels R J, Thomas N H, MacKinnon R N, Lehner T, Ott J, Flint T J, Dubowitz V, Ignatius J, Donner M, Zerres K

Abstract excerpt

Linkage data between four markers on chromosome 5 confirm and extend our previous studies that localized the mutation in spinal muscular atrophy to 5q11.2-q13.3. Localization of D5S6 by in situ hybridization refines the mapping of the defective gene to the region 5q12.2-q13. We also report the use of a highly informative PCR-based polymorphism with five alleles. This RFLP will be particularly useful for prenatal...

Topics

Chromosome Mapping
Chromosomes, Human, Pair 5
Female
Genetic Linkage
Genetic Markers
Humans
Male
Muscular Atrophy, Spinal
Mutation
Pedigree
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spinal Muscular Atrophies of Childhood

Source

Identifiers

PMID: 1346777
DOI: 10.1016/0888-7543(92)90382-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1346777-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Linkage analysis of spinal muscular atrophy.PMID 1346777Read ↗

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Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.Semantic proximity Read ↗

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.Semantic proximity Read ↗

A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy.Semantic proximity Read ↗

Microsatellite polymorphisms for chromosome 5 bands q11.2-q13.3.Semantic proximity Read ↗

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