Gusmão L, Antão-Sousa S, Faustino M, Abovich M A, Aguirre D, Alghafri R, Alves C, Amorim A, Arévalo C, Baldassarri L, Barletta-Carrillo C, Berardi G, Bobillo C, Borjas L, Braganholi D F, Brehm A, Builes J J, Cainé L, Carvalho E F, Carvalho M, Catelli L, Cicarelli R M B, Contreras A, Corach D, Di Marco F G, Diederiche M V, Domingues P, Espinoza M, Fernandéz J M, García M G, García O, Gaviria A, Gomes I, Grattapaglia D, Henao J, Hernandez A, Ibarra A A, Lima G, Manterola I M, Marrero C, Martins J A, Mendoza L, Mosquera A, Nascimento E C, Onofri V, Pancorbo M M, Pestano J J, Plaza G, Porto M J, Posada Y C, Rebelo M L, Riego E, Rodenbusch R, Rodríguez A, Rodríguez A, Sanchez-Diz P, Santos S, Simão F, Siza Fuentes L M, Sumita D, Tomas C, Toscanini U, Trindade-Filho A, Turchi C, Vullo C, Yurrebaso I, Pereira V, Pinto N
DNA Diagnostic Laboratory, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil.
Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Portugal; Instituto de Investigação e Inovação em Saúde (i3S), Porto, Portugal; Departamento de Biologia, Faculdade de Ciências da Universidade do Porto (FCUP), Porto, Portugal.
Forensic Sci Int Genet. 2025 Mar;76:103232. doi: 10.1016/j.fsigen.2025.103232. Epub 2025 Jan 27.
The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10 (DXS7133) and 1.07x10 (DXS10135), being 5.2 times higher in the male (4.16 ×10) than in the female (8.01 ×10) germline.
对位于X染色体上的短串联重复序列（STR）进行分析，一直是处理复杂亲属关系案件所采用的策略之一。然而，其效用受到群体单倍型频率数据可用性低以及缺乏突变概率相关知识的限制。由于需要大量数据才能获得可靠估计值，因此在计算这些参数时，研究将具有相似特征的群体数据进行分组的可能性非常重要。为了更好地理解法医领域最常用的X染色体STR在人群中的遗传多样性划分情况，我们基于文献中的现有数据以及通过国际法医遗传学协会西班牙和葡萄牙工作组内部合作项目获得的新数据（总共23949个单倍型，其中10445个为新数据）进行了分析。基于现有的群体数据，发现欧洲人群以及东亚人群（除了一些孤立群体）的X染色体STR特征具有相似性。而非洲、南美以及南亚和东南亚人群的情况则更为复杂，无法将它们归为大型复合群体。我们还获得了2273个父亲/母亲/女儿三人组的新分离数据，旨在更全面地分析X染色体STR的突变率。将我们的数据与已发表的父亲/母亲/女儿三人组信息相结合后，在分析的37个位点中，有13个未检测到突变。对于其余位点，突变率在2.68×10⁻⁴（DXS7133）至1.07×10⁻³（DXS10135）之间，男性生殖系中的突变率（4.16×10⁻⁴）是女性生殖系中突变率（8.01×10⁻⁵）的5.2倍。
