Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells.

doi:10.1016/0027-5107(90)90011-r

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

Back to search

Article

Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells.

Mutation research - 1 Mar 1990

Yandell D W, Dryja T P, Little J B

Abstract excerpt

We have investigated the genotypic changes that lead to expression of a recessive allele at a heterozygous autosomal locus in a human cell line. Mutant clones lacking thymidine kinase activity were derived from a B-cell lymphoblastoid line initially heterozygous at the tk locus, and restriction mapping was performed to detect intragenic structural alterations in the tk gene. In addition, informative molecular...

Topics

Blotting, Southern
Cell Line
Chromosome Banding
Chromosomes, Human, Pair 17
Clone Cells
DNA
Gene Expression
Genes, Recessive
Genetic Markers
Heterozygote
Humans
Karyotyping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutagens

Mutation

Polymorphism, Restriction Fragment Length

Thymidine Kinase

Ultraviolet Rays

X-Rays

Source

Open in PubMed

Identifiers

PMID: 1969112
DOI: 10.1016/0027-5107(90)90011-r

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1969112-2026-08-29.1. 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.

discussions

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

Molecular genetic analysis of recessive mutations at a heterozygous autosomal locus in human cells.PMID 1969112Read ↗

Molecular structure of mutations at an autosomal locus in human cells: evidence for interallelic homologous recombination.Semantic proximity Read ↗

Molecular mechanisms of spontaneous and induced loss of heterozygosity in human cells in vitro.Semantic proximity Read ↗

Reduction to homozygosity is the predominant spontaneous mutational event in cultured human lymphoblastoid cells.Semantic proximity Read ↗

DNA-sequence specificity of mutations at the human thymidine kinase locus.Semantic proximity Read ↗

Molecular nature of in vivo mutations in human cells at the autosomal HLA-A locus.Semantic proximity Read ↗

Generation of loss of heterozygosity and its dependency on p53 status in human lymphoblastoid cells.Semantic proximity Read ↗

Extensive loss of heterozygosity accounts for differential mutation rate on chromosome 17q in human lymphoblasts.Semantic proximity Read ↗

Isolation of an APRT heterozygote from TK6 human lymphoblasts: predominance of multi-locus loss of heterozygosity among spontaneous APRT-mutants.Semantic proximity Read ↗

A comparison of induced mutation at homologous alleles of the tk locus in human cells. II. Molecular analysis of mutants.Semantic proximity Read ↗

Loss of Heterozygosity and Its Importance in Evolution.Semantic proximity Read ↗

A system for assaying homologous recombination at the endogenous human thymidine kinase gene.Semantic proximity Read ↗

A comparison of induced mutation at homologous alleles of the tk locus in human cells.Semantic proximity Read ↗

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