کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3125798 1583765 2009 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome
کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی دندانپزشکی، جراحی دهان و پزشکی
پیش نمایش صفحه اول مقاله
New mutation of the patched homologue 1 gene in a Chinese family with naevoid basal cell carcinoma syndrome
چکیده انگلیسی

Naevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant mode characterised by a combination of developmental anomalies and a predisposition to form tumours. Our aim was to search for patched homologue 1 (PTHC1) mutations in a Chinese family with NBCCS. Mutation analysis of PTCH1 was done of all 10 members of this family by amplified polymerase chain reaction and direct sequencing. Two novel PTCH1 mutations (3146A→T, 1686C→T) were identified in all five affected members. The mutation, 3146A→T in exon 17, is predicted to lead to different PTCH protein translations. 1686C→T mutation in exon 11 is a nonsense mutation. These mutations were not found in any unaffected members of this family or in 100 unrelated healthy Chinese people. Our findings suggest that the 3146A→T mutation in the PTCH gene may be the cause of NBCCS by affecting the conformation and function of the PTCH protein.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: British Journal of Oral and Maxillofacial Surgery - Volume 47, Issue 5, July 2009, Pages 366–369
نویسندگان
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