کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8648079 | 1570392 | 2018 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Clinical and molecular characteristics of patients with Gaucher disease in Southern China
ترجمه فارسی عنوان
خصوصیات بالینی و مولکولی بیماران مبتلا به بیماری گوچر در جنوب چین
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کلمات کلیدی
eGFPGBAGBA genecDNA - cDNAacid β-glucosidase - اسید β-گلوکوزیدازcomplementary deoxyribonucleic acid - اسید دز اکسید ریبونوکلئیک مکملGaucher disease - بیماری گوچهMolecular analysis - تجزیه و تحلیل مولکولیExpression study - مطالعه بیانwild-type - نوع وحشیpolymerase chain reaction - واکنش زنجیره ای پلیمرازPCR - واکنش زنجیرهٔ پلیمراز
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شناسی مولکولی
چکیده انگلیسی
Gaucher disease (GD) is a common lysosomal storage disorder caused by the deficiency of acid β-glucosidase, due to mutations in the GBA gene. To explore the clinical and molecular characteristics of GD patients from Southern China, GBA gene were analyzed by nest PCR and direct Sanger-sequencing. Novel missense mutations were transiently transfected in COS-7 cells by plasmid system for functional verification. Among the 22 GD patients, 19 patients were classified as type 1 and three as type 2. Over 60% of the type 1 patient had the onset before two years of age and about 42% of them died before three years of age. Six type 1 patients with L444P homozygous genotype, presented with early onset and severe hepatosplenomegaly. Four novel mutations Y22C, F109L, L149F and c.983_990delCCCACTGG were identified. The GBA activities in vitro of novel mutants Y22C, F109L and L149F were 20.2%, 6.9% and 6.5% of the wild-type, respectively. L444P mutation accounted for 47.7% of the mutant alleles. Our results revealed that type 1 GD tends to present with a severe phenotype among southern Chinese. L444P was the most prevalent mutation and L444P homozygous genotype was associated with severe type 1 GD. Three novel missense mutations identified were pathogenic.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Blood Cells, Molecules, and Diseases - Volume 68, February 2018, Pages 30-34
Journal: Blood Cells, Molecules, and Diseases - Volume 68, February 2018, Pages 30-34
نویسندگان
Yuyu Feng, Yonglan Huang, Chengfang Tang, Hao Hu, Xiaoyuan Zhao, Huiying Sheng, Wen Zhang, Minyi Tan, Ting Xie, Jipeng Zheng, Zongcai Liu, Xueying Su, Yongxian Shao, Xiuzhen Li, Jing Cheng, Xiaojian Mao, Li Liu,