Microsatellites' mutation modeling through the analysis of the Y-chromosomal transmission: Results of a GHEP-ISFG collaborative study

被引：0

作者：

Antao-Sousa, Sofia ^{[1
,2
,3
,4
]}

Gusmao, Leonor ^{[4
]}

Modesti, Nidia M. ^{[5
]}

Feliziani, Sofia ^{[5
]}

Faustino, Marisa ^{[1
,3
]}

Marcucci, Valeria ^{[6
]}

Sarapura, Claudia ^{[6
]}

Ribeiro, Julyana ^{[4
]}

Carvalho, Elizeu ^{[4
]}

Pereira, Vania ^{[7
]}

Tomas, Carmen ^{[7
]}

de Pancorbo, Marian M. ^{[8
]}

Baeta, Miriam ^{[8
]}

Alghafri, Rashed ^{[9
]}

Almheiri, Reem ^{[9
]}

Builes, Juan Jose ^{[10
,11
]}

Gouveia, Nair ^{[12
]}

Burgos, German ^{[13
,14
]}

Pontes, Maria de Lurdes ^{[15
]}

Ibarra, Adriana ^{[16
]}

da Silva, Claudia Vieira ^{[17
]}

Parveen, Rukhsana ^{[18
]}

Benitez, Marc ^{[19
]}

Amorim, Antonio ^{[1
,2
,3
]}

Pinto, Nadia ^{[1
,2
,20
,21
]}

机构：

[1] Inst Invest & Inovacao Saude i3S, Porto, Portugal

[2] Univ Porto IPATIMUP, Inst Mol Pathol & Immunol, Porto, Portugal

[3] Univ Porto FCUP, Fac Sci, Porto, Portugal

[4] State Univ Rio De Janeiro UERJ, DNA Diagnost Lab LDD, Rio De Janeiro, Brazil

[5] Poder Judicial Cordoba, Buenos Aires, Argentina

[6] Tribunal Super Justicia Santa Cruz, Lab Reg Invest, Rio Gallegos, Argentina

[7] Univ Copenhagen, Fac Hlth & Med Sci, Dept Forens Med, Sect Forens Genet, Copenhagen, Denmark

[8] Univ Basque Country UPV EHU, Lascaray Res Ctr, Dept Zool & Anim Cell Biol, BIOM Res Grp, Vitoria, Spain

[9] Int Ctr Forens Sci, Dubai Police GHQ, Dubai, U Arab Emirates

[10] GENES SAS Lab, Medellin, Colombia

[11] Univ Antioquia, Inst Biol, Medellin, Colombia

[12] Delegacao Ctr, IP Serv Genet & Biol Forenses, Inst Nacl Med Legal & Ciencias Forenses, Lisbon, Portugal

[13] Univ Las Amer UDLA, Fac Med, One Hlth Global Res Grp, Quito, Ecuador

[14] Univ Santiago De Compostela, Grp Med Xen, Santiago De Compostela, Spain

[15] IP Serv Genet & Biol Forenses, Inst Nacl Med Legal & Ciencias Forenses, Delegacao Norte, Porto, Portugal

[16] Univ Antioquia, Lab IDENTIGEN, Aranjuez, Colombia

[17] Delegacao Sul, Inst Nacl Med Legal & Ciencias Forenses, Delegacao, Loule, Portugal

[18] Univ Punjab, Ctr Appl Mol Biol, Forens Serv Lab, Lahore, Pakistan

[19] Policia Generalitat Catalunya Mossos Esquadra, Unitat Cent Lab Biol, Barcelona, Spain

[20] Univ Porto, Ctr Math, Porto, Portugal

[21] Inst Invest & Inovacao Sande i3S, Porto, Portugal

来源：

FORENSIC SCIENCE INTERNATIONAL-GENETICS | 2024年 / 69卷

关键词：

Y chromosome; Mutation; Mutation modeling; Mutation rate estimation; Microsatellites; Y-STRs; FATHER-SON PAIRS; STR LOCI; POPULATION-SAMPLE; SEGREGATION DATA; HAN POPULATION; RATES; HAPLOTYPES; POLYMORPHISMS; FREQUENCIES; PROVINCE;

D O I：

10.1016/j.fsigen.2023.102999

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEPISFG) organized a collaborative study on mutations of Y -chromosomal short tandem repeats (Y-STRs). New data from 2225 father -son duos and data from 44 previously published reports, corresponding to 25,729 duos, were collected and analyzed. Marker -specific mutation rates were estimated for 33 Y-STRs. Although highly dependent on the analyzed marker, mutations compatible with the gain or loss of a single repeat were 23.2 times more likely than those involving a greater number of repeats. Longer alleles (relatively to the modal one) showed to be nearly twice more mutable than the shorter ones. Within the subset of longer alleles, the loss of repeats showed to be nearly twice more likely than the gain. Conversely, shorter alleles showed a symmetrical trend, with repeat gains being twofold more frequent than reductions. A positive correlation between the paternal age and the mutation rate was observed, strengthening previous findings. The results of a machine learning approach, via logistic regression analyses, allowed the establishment of algebraic formulas for estimating the probability of mutation depending on paternal age and allele length for DYS389I, DYS393 and DYS627. Algebraic formulas could also be established considering only the allele length as predictor for DYS19, DYS389I, DYS389II-I, DYS390, DYS391, DYS393, DYS437, DYS439, DYS449, DYS456, DYS458, DYS460, DYS481, DYS518, DYS533, DYS576, DYS626 and DYS627 loci. For the remaining Y-STRs, a lack of statistical significance was observed, probably as a consequence of the small effective size of the subsets available, a common difficulty in the modeling of rare events as is the case of mutations. The amount of data used in the different analyses varied widely, depending on how the data were reported in the publications analyzed. This shows a regrettable waste of produced data, due to inadequate communication of the results, supporting an urgent need of publication guidelines for mutation studies.

引用

页数：8