Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
January 2000
in “
Biochemical and Biophysical Research Communications
”
Studysummary This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
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The study characterized the genomic organization of the human keratin 15 and keratin 19 genes, which were considered potential candidates for uncharacterized genetic disorders of keratinization affecting the skin, nails, hair, and conjunctiva. The keratin 15 gene was found to have 8 exons spanning approximately 5.1 kb, while the keratin 19 gene had 6 exons covering about 4.7 kb, both located on chromosome 17q21. A PCR-based mutation detection strategy was developed to facilitate future analyses, involving primers on flanking introns and direct sequencing of PCR products.