Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 570-573, 2004.
Article
in Zh
| WPRIM
| ID: wpr-321193
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify mutations of keratin 9 (KRT9) gene in a big Chinese family with epidermolytic palmoplantar keratoderma(EPPK) combined with knuckle-pad-like lesions and nail lesions.</p><p><b>METHODS</b>Genomic DNA from peripheral blood of all available members in this family and 50 unrelated healthy individuals was used for amplification of the whole coding sequence and the intron-exon boundaries of KRT9 gene by PCR; The mutation was detected by direct sequence analysis and identified by restriction endonuclease Dde I.</p><p><b>RESULTS</b>A mutation of AAT>AGT at codon 160 (N160S) was found in all patients but not in unaffected family members and 50 controls.</p><p><b>CONCLUSION</b>The mutation of AAT>AGT at codon 160 (N160S) is the disease-causing mutation in this Chinese pedigree with EPPK.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Codon
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DNA
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DNA Mutational Analysis
/
Polymerase Chain Reaction
/
Exons
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Point Mutation
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Keratoderma, Palmoplantar
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Genetic Predisposition to Disease
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Asian People
Limits:
Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2004
Type:
Article