Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome).

doi:10.1111/j.1469-1809.1995.tb00746.x

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Article

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome).

Annals of human genetics - 1 Jul 1995

Davies G E, Howard C M, Farrer M J, Coleman M M, Bennett L B, Cullen L M, Wyse R K, Burn J, Williamson R, Kessling A M

Abstract excerpt

Genetic variation in the COL6A1-COL6A2 gene cluster on chromosome 21 was studied in 113 controls and 58 European families (including control and family subgroups of British/Irish origin) having a child with trisomy 21. There were statistically significant differences among subgroups of trisomic children with and without congenital heart defects (CHD) in distributions of definitive, 3-RFLP haplotype classes...

Topics

Adolescent
Adult
Child
Child, Preschool
Down Syndrome
Female
Genetic Variation
Genotype
Haplotypes
Heart Defects, Congenital
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Linkage Disequilibrium

Male

Multigene Family

Polymorphism, Restriction Fragment Length

Repetitive Sequences, Nucleic Acid

Source

Open in PubMed

Identifiers

PMID: 7486833
DOI: 10.1111/j.1469-1809.1995.tb00746.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7486833-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome).PMID 7486833Read ↗

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