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Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population.
Hum Genomics
April 2023
Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, People's Republic of China.
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-read single-molecule sequencing with high detection accuracy, and long-length DNA chain reads in high-fidelity read mode. This study aimed to identify novel large deletions and complex variants in the α-globin locus in Chinese population.
View Article and Find Full Text PDFHb Siriraj is a beta chain variant in which beta 7 (A4) Glu is replaced by a lysine. It has been encountered in association with Hb S in a black man from Martinique. Some properties of Hb Siriraj are compared, particularly, with Hb C [alpha 2 beta 26(A3)Glu----Lys], and a study of its in vitro interaction with Hb S is discussed.
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