Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q
- National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD (United States)
- National Cancer Institute, Bethesda, MD (United States)
- Ains-Shams Univ. Medical Genetics Center, Cairo (Egypt)
The authors 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.
- OSTI ID:
- 56724
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue 6; Other Information: PBD: Dec 1994
- Country of Publication:
- United States
- Language:
- English
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