A Novel 31.1kb alpha-Thalassemia Deletion (--(MEX3)) Found in a Mexican Family

作者：Renteria Lopez Victor M; Perea Diaz Francisco J; Rizo delaTorre Lourdes C; Sanchez Lopez Josefina Y; Ibarra Cortes Bertha^*

来源：Hemoglobin, 2017, 41(3): 180-184.

DOI：10.1080/03630269.2017.1356330

• Alu sequences
• alpha-thalassemia (alpha-thal)
• Mexico
• novel deletion

alpha-Thalassemia (-thal), a genetic disease characterized by microcytosis, hypochromia and anemia, is predominantly caused by deletions of the -globin genes, HBA2 and HBA1. In this study, we describe a novel 31.1kb -thal deletion, - -(MEX3) (NC_000016.10: g.151479_182582del), observed in a Mexican family, probably originated from non homologous recombination between two Alu sequences; the 5 Alu element has been involved in at least two other -thal deletions [- -(FIL) (NG_000006.1: g.11684_43534del) and - -(KOL)] and possesses a core homologous sequence next to the - -(MEX3) breakpoint. In addition, a 286bp insertion in an Alu sequence downstream to the - -(MEX3) 3 breakpoint was found in the studied family, - -(FIL) carriers, and healthy subjects, suggesting a common genetic variation in the Mexican population. We highlight the involvement of Alu elements and their core sequence in the origin of deletions in the -globin gene cluster, and the importance of characterizing rare mutations, to better understand DNA rearrangement origins.

• 出版日期2017