کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9131971 | 1160973 | 2005 | 9 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A humanized mouse model for a common β0-thalassemia mutation
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Accurate animal models that recapitulate the phenotype and genotype of patients with β-thalassemia would enable the development of a range of possible therapeutic approaches. Here we report the generation of a mouse model carrying the codons 41-42 (âTTCT) β-thalassemia mutation in the intact human β-globin locus. This mutation accounts for approximately 40% of β-thalassemia mutations in southern China and Thailand. We demonstrate a low level of production of γ-globins from the mutant locus in day 18 embryos, as well as production of mutant human β-globin mRNA. However, in contrast to transgenic mice carrying the normal human β-globin locus, 4-bp deletion mice fail to show any phenotypic complementation of the knockout mutation of both murine β-globin genes. Our studies suggest that this is a valuable model for gene correction in hemopoietic stem cells and for studying the effects of HbF inducers in vivo in a “humanized” thalassemic environment.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Genomics - Volume 85, Issue 4, April 2005, Pages 453-461
Journal: Genomics - Volume 85, Issue 4, April 2005, Pages 453-461
نویسندگان
Duangporn Jamsai, Faten Zaibak, Wantana Khongnium, Jim Vadolas, Lucille Voullaire, Kerry J. Fowler, Sophie Gazeas, Suthat Fucharoen, Robert Williamson, Panayiotis A. Ioannou,