Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 612-615, 2011.
Article
in Zh
| WPRIM
| ID: wpr-326882
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify keratin 5 (K5) and keratin 14 (K14) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls. All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced.</p><p><b>RESULTS</b>By DNA sequence analysis, a missense mutation in K5 gene (c.237C>T) was detected. The same mutation was not found in non-affected members from the family and normal controls.</p><p><b>CONCLUSION</b>Mutation in K5 gene (c.237C>T) may be responsible for the development of disease in this family.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pathology
/
Pedigree
/
DNA Mutational Analysis
/
Base Sequence
/
Exons
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Epidermolysis Bullosa Simplex
/
Sequence Analysis, DNA
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Hyperpigmentation
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Keratin-14
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Keratin-5
Limits:
Female
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Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2011
Type:
Article