Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome.

Human genetics - 1 Oct 1990

Priestley L, Kumar D, Sykes B

Abstract excerpt

Amplification of a variable region 3' to the human type II collagen gene (COL2A1) has permitted segregation analysis in a three generation Stickler syndrome pedigree. This family had previously proved uninformative for the known restriction fragment length dimorphisms. Amplification of the variable region revealed five distinguishable alleles, of which three were segregating in this family. The lod score in...

Topics

Abnormalities, Multiple
Alleles
Collagen
Electrophoresis, Polyacrylamide Gel
Female
Gene Amplification
Genetic Linkage
Genetic Markers
Humans
Lod Score
Male
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Restriction Fragment Length

Syndrome

Source

Identifiers

PMID: 1977683
DOI: 10.1007/BF00194230

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1977683-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome.PMID 1977683Read ↗

Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome.Semantic proximity Read ↗

Genetic and clinical heterogeneity of Stickler syndrome.Semantic proximity Read ↗

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome.Semantic proximity Read ↗

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.Semantic proximity Read ↗

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.Semantic proximity Read ↗

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.Semantic proximity Read ↗

Stickler syndrome type 2 and linkage to the COL11A1 gene.Semantic proximity Read ↗

Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity.Semantic proximity Read ↗

Correlation of linkage data with phenotype in eight families with Stickler syndrome.Semantic proximity Read ↗

Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.Semantic proximity Read ↗

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.Semantic proximity Read ↗

Segregation analysis of collagen genes in two families with joint hypermobility syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.