کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3214146 1203271 2008 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Sequence analysis of filaggrin gene by novel shotgun method in Japanese atopic dermatitis
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی امراض پوستی
پیش نمایش صفحه اول مقاله
Sequence analysis of filaggrin gene by novel shotgun method in Japanese atopic dermatitis
چکیده انگلیسی

SummaryBackgroundRecent reports indicated that nonsense mutations in filaggrin (FLG) found in ichthyosis vulgaris (IV) patients are predisposing factors for atopic dermatitis (AD) with asthma. The exon 3 of FLG contains tandemly repeated, highly homologous, 11–13 sequence units of 972 or 975 bp, each of which corresponds to the coding sequence of the processed filaggrin with slight sequence difference. This unique gene structure has hampered the precise DNA sequence determination.ObjectiveWe developed a novel DNA sequencing method “FLG-shotgun” to directly characterize the mutations in Japanese AD patients.MethodsWe examined 24 Japanese AD patients with “FLG-shotgun” method.ResultsMultiple units of FLG were amplified by PCR using several sets of common primers for the conserved regions, and DNA sequences of each cloned PCR product were determined. Multiple reads of DNA sequences in both alleles were aligned and re-constructed to cover the entire coding regions. We found three major genotypes (A, B, and C) which represent different numbers (11–13) of homologous sequence units. Furthermore, we found two novel nonsense mutations; one mutation 8666-8667CC>GA on the unit 9 of allele B that causes a nonsense mutation S2899X in two patients and the other mutation 9887C>A on the unit 10 of allele B that causes a nonsense mutation S3296X in two patients.ConclusionWe found two novel FLG mutations by directly analyzing Japanese patients with AD. FLG-shotgun will provide a valuable tool to further define the nature of the AD phenotype associated with FLG mutations.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 51, Issue 2, August 2008, Pages 113–120
نویسندگان
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