Journal article
Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3
American journal of human genetics, Vol.68(4), pp.1055-1060
04/2001
DOI: 10.1086/319514
PMCID: PMC1275625
PMID: 11254458
Abstract
Acrodermatitis enteropathica (AE) is a rare autosomal recessive pediatric disease characterized by dermatitis, diarrhea, alopecia, and growth failure. The disease results from insufficient uptake of zinc by the intestine and can be fatal unless the diet is supplemented with zinc. To map the gene responsible for AE, a genomewide screen was performed on 17 individuals, including 4 affected individuals, in a consanguineous Jordanian family. Three markers—
D8S373, D10S212,
and
D6S1021
—had a pattern consistent with tight linkage to a recessive disease: one allele in the affected sibs and multiple alleles in unaffected sibs and parents. Two-point parametric linkage analysis using FASTLINK identified one region,
D8S373,
with a maximum LOD score >1.5 (1.94 at
D8S373:
recombination fraction .001). Twelve additional markers flanking
D8S373
were used to genotype the extended family, to fine-map the AE gene. All five affected individuals—including one who was not genotyped in the genomewide screen—were found to be homozygous for a common haplotype, spanning ∼3.5 cM, defined by markers
D8S1713
and
D8S2334
on chromosomal region 8q24.3. To support these mapping data, seven consanguineous Egyptian families with eight patients with AE were genotyped using these markers, and six patients from five families were found to be homozygous in this region. Multipoint analysis with all consanguineous families, by Mapmaker/Homoz, resulted in a maximum LOD score of 3.89 between
D8S1713
and
D8S373.
Sliding three-point analysis resulted in a maximum LOD score of 5.16 between markers
D8S1727
and
D8S1744.
Details
- Title: Subtitle
- Homozygosity Mapping Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3
- Creators
- Kun Wang - University of California, San FranciscoElizabeth W Pugh - Howard Hughes Medical Institute and Departments of Medicine and Pediatrics, University of California, San FranciscoShari Griffen - Howard Hughes Medical Institute and Departments of Medicine and Pediatrics, University of California, San FranciscoKimberly F Doheny - Howard Hughes Medical Institute and Departments of Medicine and Pediatrics, University of California, San FranciscoWedad Z Mostafa - Howard Hughes Medical Institute and Departments of Medicine and Pediatrics, University of California, San FranciscoMustafa M al-Aboosi - Howard Hughes Medical Institute and Departments of Medicine and Pediatrics, University of California, San FranciscoHatem el-Shanti - Howard Hughes Medical Institute and Departments of Medicine and Pediatrics, University of California, San FranciscoJane Gitschier - Howard Hughes Medical Institute and Departments of Medicine and Pediatrics, University of California, San Francisco
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.68(4), pp.1055-1060
- Publisher
- The American Society of Human Genetics
- DOI
- 10.1086/319514
- PMID
- 11254458
- PMCID
- PMC1275625
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Alternative title
- AE Gene Localizes to 8q24.3
- Language
- English
- Date published
- 04/2001
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093372102771
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