کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3317386 | 1211563 | 2011 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Interaction between a Novel Intronic IVS3+172 Variant and N291 Mutation in PRSS1 Gene Is Associated with Pancreatitis in a Malaysian Chinese Family
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماریهای گوارشی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Background/Aims: Hereditary pancreatitis (HP) is a very rare form of early-onset chronic pancreatitis, which usually begins in childhood with a variable spectrum of severityof disease. HP is commonly caused by variants/mutations in the PRSSI gene as reported in many studies. Therefore, in this study, we aimed to investigate the possible association of PRSSI gene variants/mutations in a Malaysian Chinesefamily with HP. Methods: Genomic DNA of the 6 family members was extracted, amplified using polymerase chain reaction and the entire PRSSI gene was analyzed via sequencing. Results: PRSSI gene sequencing results revealed two variants/ mutations in this study. The results show that all the subjects (patients) inherited an intronic SNP IVS3+172 variant, together with a p.N291 mutation except for subjects 3 and 4 who are normal. Conclusion: We believe that interaction between the novel IVS3+172 intronic variant and p.N291 mutation in the PRSSI gene is associated with HP in this Malaysian Chinese family.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pancreatology - Volume 11, Issue 4, August 2011, Pages 441-444
Journal: Pancreatology - Volume 11, Issue 4, August 2011, Pages 441-444
نویسندگان
Kek Heng Chua, Suat Moi Puah, Ching Hoong Chew, Choon Heng Wong, Khean Lee Goh,