Frequent copy number variants in a cohort of Mexican-Mestizo individuals

Molecular Cytogenetics

Research

Patricia Grether-González¹  Camilo Villarroel²  Esther Lieberman²  Victoria Del Castillo²  Emiy Yokoyama²  Leda Torres³  Ulises Juárez³  Julieta Domínguez³  Bertha Molina³  Rehotbevely Barrientos³  Sara Frias⁴  Silvia Sánchez⁵  Alessandra Carnevale⁶  Angélica Martínez-Hernández⁷  Dora Gilda Mayen⁸ 

[1] Departamento de Genética y Genómica Humana, Instituto Nacional de Perinatología, Ciudad de Mexico, México;Centro Médico ABC, Campus Santa Fe, Ciudad de Mexico, México;Genética Humana, Instituto Nacional de Pediatría, Ciudad de Mexico, México;Laboratorio de Citogenética, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C Insurgentes Cuicuilco, P01090, Ciudad de Mexico, México;Laboratorio de Citogenética, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C Insurgentes Cuicuilco, P01090, Ciudad de Mexico, México;Departamento de Medicina Genómica y Toxicología Ambiental, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Ciudad de México, México;Laboratorio de Citogenética, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C Insurgentes Cuicuilco, P01090, Ciudad de Mexico, México;Posgrado en Ciencias Biológicas, Universidad Nacional Autónoma de México, Ciudad de México, México;Laboratorio de Enfermedades Mendelianas, Instituto Nacional de Medicina Genómica, Ciudad de Mexico, México;Laboratorio de Inmunogenómica y Enfermedades Metabólicas, Instituto Nacional de Medicina Genómica, Ciudad de Mexico, México;Unidad de Genética Aplicada. Hospital Ángeles Lomas, Huixquilucan, Edo. de México, México;

关键词: CNV;    Mexican population;    Hispanic population;    2p11.2;    8p11.22;    14q32.33;    15q11.2;    Affymetrix SNP6.0;   

DOI  :  10.1186/s13039-022-00631-z

 received in 2022-11-01, accepted in 2022-12-13,  发布年份 2022

来源: Springer

【 摘 要 】

BackgroundThe human genome presents variation at distinct levels, copy number variants (CNVs) are DNA segments of variable lengths that range from several base pairs to megabases and are present at a variable number of copies in human genomes. Common CNVs have no apparent influence on the phenotype; however, some rare CNVs have been associated with phenotypic traits, depending on their size and gene content. CNVs are detected by microarrays of different densities and are generally visualized, and their frequencies analysed using the HapMap as default reference population. Nevertheless, this default reference is inadequate when the samples analysed are from people from Mexico, since population with a Hispanic genetic background are minimally represented. In this work, we describe the variation in the frequencies of four common CNVs in Mexican-Mestizo individuals.ResultsIn a cohort of 147 unrelated Mexican-Mestizo individuals, we found that the common CNVs 2p11.2 (99.6%), 8p11.22 (54.5%), 14q32.33 (100%), and 15q11.2 (71.1%) appeared with unexpectedly high frequencies when contrasted with the HapMap reference (ChAS). Yet, while when comparing to an ethnically related reference population, these differences were significantly reduced or even disappeared.ConclusionThe findings in this work contribute to (1) a better description of the CNVs characteristics of the Mexican Mestizo population and enhance the knowledge of genome variation in different ethnic groups. (2) emphasize the importance of contrasting CNVs identified in studied individuals against a reference group that—as best as possible—share the same ethnicity while keeping this relevant information in mind when conducting CNV studies at the population or clinical level.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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