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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Hashem, N. DiGiovanna, J. J. Russell, L. J. Compton, J. G. Bale, S. J. |
| Spatial Coverage | Egypt |
| Description | Author Affiliation: Russell LJ ( Genetic Studies Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892-2757.) |
| Abstract | We have mapped the locus for lamellar ichthyosis (LI), an autosomal recessive skin disease characterized by abnormal cornification of the epidermis. Analysis using both inbred and outbred families manifesting severe LI showed complete linkage to several markers within a 9.3-cM region on chromosome 14q11. Affected individuals in inbred families were also found to have striking homozygosity for markers in this region. Linkage-based genetic counseling and prenatal diagnosis is now available for informative at-risk families. Several transcribed genes have been mapped to the chromosome 14 region containing the LI gene. The transglutaminase 1 gene (TGM1), which encodes one of the enzymes responsible for cross-linking epidermal proteins during formation of the stratum corneum, maps to this interval. The TGM1 locus was completely linked to LI (Z = 9.11), suggesting that TGM1 is a good candidate for further investigation of this disorder. The genes for four serine proteases also map to this region but are expressed only in hematopoietic or mast cells, making them less likely candidates. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 6 |
| Volume Number | 55 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1994-12-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Chromosomes, Human, Pair 14 Genes, Recessive Genetic Linkage Ichthyosis, Lamellar Genetics Skin Diseases Adolescent Egypt Epidemiology Genetic Markers Haplotypes Homozygote Likelihood Functions Lod Score Research Support, U.s. Gov't, Non-p.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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