ArticleAmerican journal of human genetics1996
A locus for Fanconi anemia on 16q determined by homozygosity mapping.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 32 citations in OpenAlex.
- 2015 Curt Stern Award.American journal of human genetics · 2016Article
- Article
- A simple and efficient algorithm for genome-wide homozygosity analysis in disease.Molecular systems biology · 2009Article
- Frequent genomic imbalances suggest commonly altered tumour genes in human hepatocarcinogenesis.British journal of cancer · 2001Article
- Full-genome scan for linkage in 50 families segregating the bipolar affective disease phenotype.American journal of human genetics · 2000Article
- Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.British journal of cancer · 1999Article
- A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters.American journal of human genetics · 1998Article
- Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.American journal of human genetics · 1997Article
- Sequence variation in the Fanconi anemia gene FAA.Proceedings of the National Academy of Sciences of the United States of America · 1997Article
- Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24.American journal of human genetics · 1997Article
- Strategies for mapping heterogeneous recessive traits by allele-sharing methods.American journal of human genetics · 1997Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
Abstract
We report the results of a genomewide scan using homozygosity mapping to identify genes causing Fanconi anemia, a genetically heterogeneous recessive disorder. By studying 23 inbred families, we detected linkage to a locus causing Fanconi anemia near marker D16S520 (16q24.3). Although -65% of our families displayed clear linkage to D16S520, we found strong evidence (P = .0013) of genetic heterogeneity. This result independently confirms the recent mapping of the FAA gene to chromosome 16 by Pronk et al. Family ascertainment was biased against a previously identified FAC gene on chromosome 9, and no linkage was observed to this locus. Simultaneous search analysis suggested several additional chromosomal regions that could account for a small fraction of Fanconi anemia in our families, but the sample size is insufficient to provide statistical significance. We also demonstrate the strong effect of marker allele frequencies on LOD scores obtained in homozygosity mapping and discuss ways to avoid false positives arising from this effect.
Indexed as
Identifiers
8755924PMC1914713W1487260701What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.