کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1914355 | 1535157 | 2011 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Two McLeod patients with novel mutations in XK
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
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چکیده انگلیسی
McLeod syndrome (MLS) is a rare, X-linked, late-onset, disease involving hematological, brain, and neuromuscular systems, caused by mutations in XK that result in either defective XK or complete loss of XK protein. Acanthocytosis of erythrocytes is a typical feature. We report novel mutations in two patients who exhibited typical clinical characteristics of MLS. The coding and flanking intronic regions of XK were amplified by PCR, sequenced, and compared with the normal XK sequence. XK protein, and its complexed partner protein, Kell, were assessed by Western blot analysis. Patient 1 was found to have a single base insertion, 605insA at 175Ile creating a frame shift within the coding sequence of XK. Patient 2 had a single base substitution in the 3â² splice sequence of intron 2 (IVS2-2a>g). In both cases mutations resulted in the absence of XK protein.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 305, Issues 1â2, 15 June 2011, Pages 160-164
Journal: Journal of the Neurological Sciences - Volume 305, Issues 1â2, 15 June 2011, Pages 160-164
نویسندگان
Patrycja M. Dubielecka, Nelson Hwynn, Cenk Sengun, Soohee Lee, Christine Lomas-Francis, Carlos Singer, Hubert H. Fernandez, Ruth H. Walker,