Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Cuize Yao"'
Autor:
Yimo Zeng, Hongke Ding, Xingwang Wang, Yanlin Huang, Ling Liu, Li Du, Jian Lu, Jing Wu, Yukun Zeng, Mingqin Mai, Juan Zhu, Lihua Yu, Wei He, Fangfang Guo, Haishan Peng, Cuize Yao, Yiming Qi, Yuan Liu, Fake Li, Jiexia Yang, Rong Hu, Jie Liang, Jicheng Wang, Wei Wang, Yan Zhang, Aihua Yin
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-9 (2024)
Abstract Background Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the effectiveness of clinica
Externí odkaz:
https://doaj.org/article/433d3f2043ea4df4a876a0f806b3fcd1
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Abnormal hemoglobin anti-Lepore Hong Kong is a rare βδ fusion variants resulting from non-homologous crossover during meiosis. Anti-Lepore Hong Kong is known to consistently exhibit significantly increased level of HbA2. In this study, we
Externí odkaz:
https://doaj.org/article/0b4b0ec338374c86ae8f8d41fbb1104c
Autor:
Xiuqin Bao, Danqing Qin, Jicheng Wang, Jing Chen, Cuize Yao, Jie Liang, Kailing Liang, Yixia Wang, Yousheng Wang, Li Du, Aihua Yin
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-5 (2023)
Abstract Background β-Thalassemia is mainly caused by point mutations in the β-globin gene cluster. With the rapid development of sequencing technic, more and more variants are being discovered. Results In this study, we found two novel deletion mu
Externí odkaz:
https://doaj.org/article/409a8ace333143a18f88cc9920f25a84
Autor:
Xiuqin Bao, Jicheng Wang, Danqing Qin, Cuize Yao, Jie Liang, Kailing Liang, Yukun Zeng, Li Du
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-7 (2023)
Abstract Background At present, the methods generally used to detect α-thalassemia mutations are confined to detecting common mutations, which may lead to misdiagnosis or missed diagnosis. The single-molecule real-time (SMRT) sequencing enables long
Externí odkaz:
https://doaj.org/article/3a60b74a53f742b6b2ede8a19908c8db
Autor:
Bin Tang, Jicheng Wang, Danqinq Qin, Cuize Yao, Keyi Chen, Lihua Liang, Huiying Chai, Hao Guo, Li Du
Publikováno v:
Hematology, Vol 28, Iss 1 (2023)
ABSTRACTBackground Hb Chapel Hill [Alpha2 74(EF3) Asp > Gly] results from an GAC > GGC substitution at codon 74 of the HBA1 or HBA2 genes. Hb Chapel Hill has not been reported since 1986.Methods A heterozygous mutation, HBA2: c.224A > G, was identifi
Externí odkaz:
https://doaj.org/article/11f22212c1d4452e9f2e36fc663a3d7b
Publikováno v:
Hematology, Vol 28, Iss 1 (2023)
ABSTRACTObjective In the present study, two unrelated cases of Hb Q-Thailand heterozygosity unlinked with the (–α4.2/) α+-thalassemia deletion allele were identified by long-read single molecule real-time (SMRT) sequencing in southern China. The
Externí odkaz:
https://doaj.org/article/dd801e90609943cfb3409db24de497f5
Publikováno v:
Hematology, Vol 27, Iss 1, Pp 867-873 (2022)
Objectives Here we report two rare α-globin chain variants in two unrelated families: Hb Val de Marne [α133(H16) Ser > Arg (AGC > CGC); HBA2: c.400A > C] and Hb Dongguan [α52(E6) Ser > Cys (TCT > TGT); HBA1: c.158C > G]. Notably, HBA2: c.400A > C
Externí odkaz:
https://doaj.org/article/c6c35f9cb06c455dbef0ea75ab88773e
Publikováno v:
Hematology, Vol 27, Iss 1, Pp 826-830 (2022)
Objective The 3.7 kb deletion (-α3.7) in the α-globin cluster, which characterizes α+-thalassemia, has been reported to have a carrier rate of 4.78% in southern China. Three -α3.7 subtypes have been identified worldwide. However, the -α3.7 III s
Externí odkaz:
https://doaj.org/article/993ecddceff644ce893b23b7861b27b4
Autor:
Xiuqin Bao, Danqing Qin, Jian Ma, Xiangcheng Zhou, Jicheng Wang, Cuize Yao, Liang Zhang, Li Du
Publikováno v:
Hematology, Vol 27, Iss 1, Pp 198-203 (2022)
Background The α-thalassemia is a highly prevalent disease in tropical and subtropical regions, including southern China, and is mainly caused by deletion in α-globin genes (HBA1 and HBA2). The clinical manifestation of α-thalassemia is highly cor
Externí odkaz:
https://doaj.org/article/7d5df372d2d9410b9fd33815a7b35b16
Autor:
Li Du, Danqing Qin, Jicheng Wang, Cuize Yao, Juan Zhu, Hao Guo, Tenglong Yuan, Jie Liang, Aihua Yin
Publikováno v:
Hematology, Vol 27, Iss 1, Pp 258-262 (2022)
Hemoglobin Santa Ana [β88(F4)Leu→Pro (CTG > CCG) HBB: c.266T > C] is an unstable hemoglobin variant characterized by a substitution of the amino acid leucine by proline at the 88th position of the β-globin chain. We for the first time identified
Externí odkaz:
https://doaj.org/article/845e0a4d8ed440a88959a6b1c84a7e99