کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10940675 | 1095507 | 2016 | 27 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome
ترجمه فارسی عنوان
بازآرایی کروموزومی - علت نادر فاکتور مکمل من مربوط به سندروم اورهمی همولیتیک آتیپیک
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیولوژی سلول
چکیده انگلیسی
Chromosomal rearrangements affecting the genes encoding complement factor H and the factor H related proteins have been described in aHUS patients. To date such disorders have not been described in other aHUS associated genes. We describe here a heterozygous 875,324Â bp deletion encompassing the gene (CFI) encoding complement factor I and ten other genes. The index case presented with aHUS and did not recover renal function. No abnormalities were detected on Sanger sequencing of CFI but a low factor I level led to a multiplex ligation-dependent probe amplification assay being undertaken. This showed a complete heterozygous deletion of CFI. The extent of the deletion and the breakpoint was defined. In the Newcastle aHUS cohort we have identified and report here 32 different CFI variants in 56 patients but to date this is the only deletion that we have identified. This finding although rare does suggest that screening for chromosomal rearrangements affecting CFI should be undertaken in all aHUS patients particularly if the factor I level is unexplainably low.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Immunobiology - Volume 221, Issue 10, October 2016, Pages 1124-1130
Journal: Immunobiology - Volume 221, Issue 10, October 2016, Pages 1124-1130
نویسندگان
Patrick J. Gleeson, Valerie Wilson, Thomas E. Cox, Seema D. Sharma, Kate Smith-Jackson, Lisa Strain, David Lappin, Teresa McHale, David Kavanagh, Timothy H.J. Goodship,