Of the 12 gene mutations, 85% were frequently observed in Saudi Arabia, while 15% were less frequent. The regional distribution of HBB gene mutations varied considerably. Conclusion: The population diversity in Saudi Arabia contributes to the variability in the prevalence rates of H...
Commercial NGS panels are prohibitively expensive and hence are not routinely implemented in most laboratories. We have developed a cost-effective, highly sensitive and specific, indigenous targeted NGS assay for detecting mutations in the HBB gene. Using this custom NGS assay, we processed 1530 ...
Objective This study was undertaken to identify HBB gene mutation. Design and methods Herein we evaluated high-resolution melting analysis in the identifi... Hung-Chang Shih a b c d,Tze-Kiong Er b e,Tien-Jye Chang c,... - 《Clinical Biochemistry》 被引量: 94发表: 2009年 Disorders of ...
Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant. Hyperunstable hemoglobinopathy (HUH) [dominantly inherited -thalassemia (-thal)] is a relatively rare form of congenital hemolytic anemia in which mutation... MW Kent,JL Oliveira,JD Hoyer,....
7, an enrichment of Nr2f2 binding to the promoter of atrial natriuretic factor, Anf, was noted in the Nr2f2mutant rats. Anf is a direct target gene known to be influenced by the Nr2f2–Fog2 interaction14. Similar enrichments were not observed with promoters for renin and ApoB, which ...
Xiu-zhen Liu1,2, Ting-ting Wang1,2, Li Cheng1,3, Bo-yu Wang1,2, Xiang Lv1,2, Yue Huang1,3 & De-pei Liu1,2 β-Thalassemia is one of the most common genetic blood diseases and is caused by either point mutations or deletions in the β-globin (HBB) gene. Th...
We previously reported a mutational hot-spot in the HBB gene and established a cost-effective molecular method (high resolution melting curve analysis) for screening of HBB gene mutations in Bangladesh [63]. Such a cost-effective approach can be adopted for TDH patients and carrier screening ...
The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study Twenty-eight different β-globin gene mutations were identified. The most prevalent mutations were IVS-I-110 (G>A) (HBB: c.93-21G>A), IVS-II-1 ... C Farra,L Abdouni,M Souaid...
A novel AIRE gene mutation in a patient with autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy revealed by alopecia areata 来自 Semantic Scholar 喜欢 0 阅读量: 32 作者: A Aycha,B Lobna,HBB Dorra,M Mélanie,A Amina,G Najet,C Jean-Laurent,N Rafiaa,P Anne,D Mohamed 展开 ...
The rest of the 5-kb duplicated region differs on average in B14% of nucleotides5. During the fetal period, the Gg gene, which is closer to the powerful locus control region enhancer (LCR), is expressed about twice as strongly as the Ag gene6. Genome editing has become an important ...