Discover Community Create You

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

Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.

Human genetics - 1 Mar 1995

Lin H C, Reichardt J K

Abstract excerpt

We have identified a novel SacI restriction fragment length polymorphism (RFLP) in the human galactose-1-phosphate uridyl transferase (GALT) gene. This RFLP can be readily typed by the polymerase chain reaction (PCR). The polymorphic allele is found on about 11% of normal chromosomes and is in linkage disequilibrium with the two most common mutations identified in GALT thus far: Q188R and N314D. Q188R is found...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Deoxyribonucleases, Type II Site-Specific
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Galactosemias

Share to GALT gene

Share to Linkage Disequilibrium

Share to Mutation

Share to Polymorphism, Restriction Fragment Length

Share to UTP-Hexose-1-Phosphate Uridylyltransferase

Source

Identifiers

PMID: 7868133
DOI: 10.1007/BF00225208

Genes

GALT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.PMID 7868133Read ↗

The human galactose-1-phosphate uridyltransferase gene.Semantic proximity Read ↗

A novel polymorphism causes a different restriction pattern by RsaI in the beta-globin gene cluster: application in prenatal diagnosis.Semantic proximity Read ↗

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.Semantic proximity Read ↗

Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.Semantic proximity Read ↗

Detection of common mutations in the GALT gene through ARMS.Semantic proximity Read ↗

Rat galactose-1-phosphate uridyltransferase coding sequence, transcription start site and genomic organization.Semantic proximity Read ↗

Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC.Semantic proximity Read ↗

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).Semantic proximity Read ↗

Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.Semantic proximity Read ↗

Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.Semantic proximity Read ↗

The origin of glucose-6-phosphate-dehydrogenase (G6PD) polymorphisms in African-Americans.Semantic proximity Read ↗

SacI identifies an additional RFLP at the D11S12 locus.Semantic proximity Read ↗

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