sudexpertТеория и практика судебной экспертизыTheory and Practice of Forensic Science1819-27852587-7275The Russian Federal Centre of Forensic Science10.30764/4/1819-2785-2026-1-39-47sudexpert-906Research ArticleТЕОРЕТИЧЕСКИЕ ВОПРОСЫTHEORETICAL ISSUESПрогнозирование фенотипических признаков лица по ДНК: состояние исследованийPrediction of Facial Phenotypic Traits by DNA: Status of Researchhttps://orcid.org/0000-0002-4005-1887СхаляхоР. А.SkhalyakhoR. A.

Схаляхо Роза Арамбиевна - к. б. н., старший научный сотрудник отдела антропологии

Санкт-Петербург 199034

Skhalyakho Roza Arambievna - Cand. Sc. (Biology), Senior Researcher

Saint-Petersburg 199034

shalyaho.roza@yandex.ruЗапорожченкоВ. В.ZaporozhchenkoV. V.

Запорожченко Валерий Владимирович - научный сотрудник лаборатории анализа генома

Москва 119991

Zaporozhchenko Valerii Vladimirovich - Researcher at the Genome Analysis Laboratory

Moscow 119991

valeryz2001@gmail.comМузей антропологии и этнографии им. Петра Великого (Кунсткамера)РоссияPeter the Great Museum of Anthropology and Ethnography (Kunstkamera) of the Russian Academy of Sciences (MAE RAS)Russian FederationИнститут обшей генетики им. Н.И. Вавилова Российской академии наукРоссияVavilov Institute of General Genetics of the Russian Academy of SciencesRussian Federation2026120820262113947Copyright © Схаляхо Р.А., Запорожченко В.В., 20262026Схаляхо Р.А., Запорожченко В.В.Skhalyakho R.A., Zaporozhchenko V.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.tipse.ru/jour/article/view/906

В статье рассматривается состояние исследований, направленных на прогнозирование фенотипических признаков индивида по генетическому материалу. Выявление ДНК-маркеров, ответственных за различные фенотипические признаки, востребовано не только в криминалистике, но и в исследованиях древней ДНК. Несмотря на актуальность направления и большой массив публикаций, в настоящее время исследования все еще находятся на ранней стадии. Биоинформатический анализ геномных данных, накопленных научным сообществом в последние годы, позволил выявить ключевые ДНК-маркеры, влияющие на исследуемые признаки внешности, а также определить географию аллелей. Отмечается, что одни и те же признаки внешности в населении разных регионов мира могут определяться разными мутациями в одних и тех же генах, что актуально и при изучении населения России. Внедрение современных технологий полногеномного секвенирования и искусственного интеллекта дает очевидные преимущества, в том числе, в получении более точных и практически ценных методов судебно-криминалистической идентификации личности, в медицинской генетике и палеогенетике.

The article considers the current state of research aimed at predicting the human phenotypic characteristics based on genetic material. Identification of DNA markers corresponding to certain phenotypes is in demand not only in forensic practices but also in ancient DNA studies. Despite the overall relevance of this field and a large array of publications, research is currently still at its early stage. Bioinformatic analysis of genomic data collected by the scientific community in recent years made it possible to identify the key DNA markers affecting the examined physical characteristics as well as to determine the geography of the alleles. It is noted that the same appearance characteristics in the population of different regions of the world can be determined by different mutations in the ~~same genes which is also relevant when studying the population of Russia. The introduction of modern~~ techniques of whole-genome sequencing and artificial intelligence provides obvious advantages, including obtaining more accurate and practically valuable methods of forensic identification, medical genetics and paleogenetics.

судебная экспертизасудебная молекулярно-генетическая экспертизаДНК-идентификацияцвет глазцвет волослицевая морфологиягеномGWASforensic examinationforensic molecular genetic examinationDNA identificationeye colorhair colorfacial morphologyhuman genomeGWASReferencesРогинский Я.Я., Левин М.Г. Антропология. Учебное пособие. 3-е изд. М.: Высшая шко-ла, 1978. 528 с.Roginsky Y.Y., Levin M.G. Anthropology. Textbook. 3rd ed. Moscow: Higher School, 1978. 528 p. (In Russ.).Хрисанфова Е.Н., Перевозчиков И.В. Антро-пология. Учебное пособие. М.: Наука, 2005. 400 с.Khrisanfova E.N., Perevozchikov I.V. Anthropology. Textbook. Moscow: Nauka, 2005. 400 p. (In Russ.)/Богатенков Д.В. Введение в антропологию: учебное пособие. М.: Московский городской психолого-педагогический университет, 2004. 459 с.Bogatenkov D.V. Introduction to Anthropology. Study Guide. Moscow: Moskovskii gorodskoi psikhologo-pedagogicheskii universitet, 2004. 495 p. (In Russ.).Chaitanya L., Walsh S., Andersen J.D., Ansell R., Ballantyne K. et al. Collaborative EDNAP Exercise on the IrisPlex System for DNA-Based Prediction of Human Eye Colour // Forensic Science International: Genetics. 2014. Vol. 11. P. 241–251. https://doi.org/10.1016/j.fsigen.2014.04.006Chaitanya L., Walsh S., Andersen J.D., Ansell R., Ballantyne K. et al. Collaborative EDNAP Exercise on the IrisPlex System for DNA-Based Prediction of Human Eye Colour. Forensic Science International: Genetics. 2014. Vol. 11. P. 241–251. https://doi.org/10.1016/j.fsigen.2014.04.006Walsh S., Chaitanya L., Clarisse L., Wirken L., Draus-Barini J. et al. Developmental Validation of the HIrisPlex System: DNA-based Eye and Hair Colour Prediction for Forensic and Anthropological Usage // Forensic Science International: Genetics. 2014. Vol. 9. P. 150–161. https://doi.org/10.1016/j.fsigen.2013.12.006Walsh S., Chaitanya L., Clarisse L., Wirken L., Draus-Barini J. et al. Developmental Validation of the HIrisPlex System: DNA-based Eye and Hair Colour Prediction for Forensic and Anthropological Usage. Forensic Science International: Genetics. 2014. Vol. 9. P. 150–161. https://doi.org/10.1016/j.fsigen.2013.12.006Walsh S., Chaitanya L., Breslin K., Muralidha-ran C., Bronikowska A. et al. Global Skin Colour Prediction from DNA // Human Genetics. 2017. Vol. 136. No. 7. P. 847–863. https://doi.org/10.1007/s00439-017-1808-5Walsh S., Chaitanya L., Breslin K., Muralidharan C. et al. Global Skin Colour Prediction from DNA. Human Genetics. 2017. Vol. 136. No. 7. P. 847–863. https://doi.org/10.1007/s00439-017-1808-5HIrisPlex-S Eye, Hair and Skin Colour DNA Phenotyping Webtool. https://hirisplex.erasmusmc.nl/HIrisPlex-S Eye, Hair and Skin Colour DNA Phenotyping Webtool. https://hirisplex.erasmusmc.nl/Sulem P., Gudbjartsson D.F., Stacey S.N., Helgason A., Rafnar T. et al. Genetic Determinants of Hair, Eye and Skin Pigmentation in Europeans // Nature Genetics. 2007. Vol. 39. No. 12. P. 1443–1452. https://doi.org/10.1038/ng.2007.13Sulem P., Gudbjartsson D.F., Stacey S.N., Helgason A., Rafnar T. et al. Genetic Determinants of Hair, Eye and Skin Pigmentation in Europeans. Nature Genetics. 2007. Vol. 39. No. 12. P. 1443–1452. https://doi.org/10.1038/ng.2007.13Sulem P., Gudbjartsson D.F., Stacey S.N., Helgason A., Rafnar T. et al. Two Newly Identified Genetic Determinants of Pigmentation in Europeans // Nature Genetics. 2008. Vol. 40. No. 7. P. 835–837. https://doi.org/10.1038/ng.160Sulem P., Gudbjartsson D.F., Stacey S.N., Helgason A., Rafnar T. et al. Two Newly Identified Genetic Determinants of Pigmentation in Europeans. Nature Genetics.. 2008. Vol. 40. No. 7. P. 835–837. https://doi.org/10.1038/ng.160.Palmal S., Adhikari K., Mendoza-Revilla J., Fuentes-Guajardo M. et al. Prediction of Eye, Hair and Skin Colour in Latin Americans // Forensic Science International: Genetics. 2021. Vol. 53. 102517. https://doi.org/10.1016/j.fsigen.2021.102517Palmal S., Adhikari K., Mendoza-Revilla J., Fuentes-Guajardo M. et al. Prediction of Eye, Hair and Skin Colour in Latin Americans. Forensic Science International: Genetics. 2021. Vol. 53. 102517. https://doi.org/10.1016/j.fsigen.2021.102517Jeong C., Balanovsky O., Lukianova E., Kahbatkyzy N., Flegontov P. et al. The Genetic History of Admixture across Inner Eurasia // Nature Ecology & Evolution. 2019. Vol. 3. No. 6. P. 966–976. https://doi.org/10.1038/s41559-019-0878-2Jeong C., Balanovsky O., Lukianova E., Kahbatkyzy N., Flegontov P. et al. The Genetic History of Admixture Across Inner Eurasia. Nature Ecology & Evolution. 2019. Vol. 3. No. 6. P. 966–976. https://doi.org/10.1038/s41559-019-0878-2Balanovska E., Kagazezheva J., Agdzhoyan A., Pylev V., Balanovsky O. et al. Optimizing the Genetic Prediction of the Eye and Hair Color for North Eurasian Populations // BMC Genomics. 2020. Vol. 21. No. Suppl. 7. P. 527. https://doi.org/10.1186/s12864-020-06923-1Balanovska E., Kagazezheva J., Agdzhoyan A., Pylev V., Balanovsky O., et al. Optimizing the Genetic Prediction of the Eye and Hair Color for North Eurasian Populations. BMC Genomics. 2020. Vol. 21. No. 7. P. 527.Балановская Е.В., Горин И.О., Балановс-кий О.П. Способ определения вероятности цвета глаз индивидуума, происходящего из популяций России, и панель однонуклео-тидных полиморфизмов. Заявка на патент № 2020137355 от 13.11.2020.Balanovskaya E.V., Gorin I.O., Balanovsky O.P. Method for Determining Probability of Eye Color in an Individual Originating from Russian Populations and Single-Nucleotide Polymorphism Panel. Patent Application No. 2020137355, November 13, 2020. (In Russ.)Балановская Е.В., Горин И.О., Кошель С.М., Балановский О.П. Геногеографический атлас ДНК-маркеров, контролирующих цвет глаз и волос человека // Генетика. 2021. Т. 57. № 12. C. 1356–1375. https://doi.org/10.31857/S0016675821120031Balanovska E.V., Gorin I.O., Koshel S.M., Balanovsky O.P. Gene Geographic Atlas of Dna Markers Controlling Human Eye and Hair Color. Russian Journal of Genetics. 2021. Vol. 57. No. 12. P. 1356–1375. (In Russ.). https://doi.org/10.31857/S0016675821120031Lazaridis I., Nadel D., Rollefson G., Merrett D.C., Rohland N. et al. Genomic Insights into the Ori-gin of Farming in the Ancient Near East // Na-ture. 2016. Vol. 25. No. 536 (7617). P. 419–424. https://doi.org/10.1038/nature19310Lazaridis I., Nadel D., Rollefson G., Merrett D.C., Rohland N. et al. Genomic Insights into the Origin of Farming in the Ancient Near East. Nature. 2016. Vol. 25. No. 536 (7617). P. 419–424. https://doi.org/10.1038/nature19310Clemente F., Unterl nder M., Dolgova O. et al. The Genomic History of the Aegean Palatial Civilizations // Cell. 2021. Vol. 184. No. 10. P. 2565–2586.e21. https://doi.org/10.1016/j.cell.2021.03.039Clemente F., Unterl nder M., Dolgova O. et al. The Genomic History of the Aegean Palatial Civilizations. Cell. 2021. Vol. 184. No. 10. P. 2565–2586.e21. https://doi.org/10.1016/j.cell.2021.03.039Brunel S., Bennett A., Cardin L., Pruvost M. Ancient Genomes from Present-Day France Unveil 7000 Years of Its Demographic History // Proceedings of the National Academy of Sciences. 2020. Vol. 117. No. 23. P. 12791–12798. https://doi.org/10.1073/pnas.1918034117Brunel S., Bennett A., Cardin L., Pruvost M. Ancient Genomes from Present-Day France Unveil 7000 Years of Its Demographic History. Proceedings of the National Academy of Sciences. 2020. Vol. 117. No. 23. P. 12791–12798. https://doi.org/10.1073/pnas.1918034117Feldman M., Fern ndez-Dom nguez E., Reyn-olds L. et al. Late Pleistocene Human Genome Suggests a Local Origin for the First Farmers of Central Anatolia // Nature Communications. 2019. Vol. 10. St. 1218. https://doi.org/10.1038/s41467-019-09209-7Feldman M., Fern ndez-Dom nguez E., Reynolds L. et al. Late Pleistocene Human Genome Suggests a Local Origin for the First Farmers of Central Anatolia. Nature Communications. 2019. Vol. 10. St. 1218. https://doi.org/10.1038/s41467-019-09209-7Spichenok O., Budimlija Z.M., Mitchell A.A., Jenny A., Kovacevic L., Marjanovic D., Caragine T., Prinz M., Wurmbach E. Prediction of Eye and Skin Color in Diverse Populations Using Seven SNPs // Forensic Science International: Gene-tics. 2011. Vol. 5. No. 5. P. 472–478. https://doi.org/10.1016/j.fsigen.2010.10.005Spichenok O., Budimlija Z. M., Mitchell A. A., JennyA.,KovacevicL.,MarjanovicD.,CaragineT., Prinz M., Wurmbach E. Prediction of Eye and Skin Color in Diverse Populations Using Seven SNPs. Forensic Science International: Genetics. 2011. Vol. 5. No. 5. P. 472-478. https://doi.org/10.1016/j.fsigen.2010.10.005Liu F., Visser M., Duffy D.L., Hysi P.G., Jacobs L.C. et al. Genetics of Skin Color Variation in Euro-peans: Genome-Wide Association Studies with Functional Follow-Up // Human Genetics. 2015. Vol. 134. No. 8. P. 823–835. https://doi.org/10.1007/s00439-015-1559-0Liu F., Visser M., Duffy D.L., Hysi P.G., Jacobs L.C. et al. Genetics of Skin Color Variation in Europeans: Genome-Wide Association Studies with Functional Follow-Up. Human Genetics. 2015. Vol. 134. No. 8. P. 823–835. https://doi.org/10.1007/s00439-015-1559-0Фесенко Д.О., Ивановский И.Д., Иванов П.Л., Земскова Е.Ю., Агапитова А.С., Поляков С.А., Фесенко О.Е., Филиппова М.А., Заседате-лев А.С. Биочип для генотипирования по-лиморфизмов, ассоциированных с цветом глаз, волос, кожи, группой крови, половой принадлежностью, основной гаплогруппой Y-хромосомы, и его использование для ис-следования славянской популяции // Молеку-лярная биология. 2022. Т. 56. № 5. С. 860–880. https://doi.org/10.31857/S0026898422050056Fesenko D.O., Ivanovsky P.L., Ivanov P.L., Zemskova E.Yu., Agapitova A.S., Polyakov S.A., Fesenko O.E., Filippova M.A., Zasedatelev A.S. Biochip for Genotyping Polymorphisms Associated with Eye, Hair, Skin Color, Abo Blood Groupe, Sex, Core Y-Chromosome Haplo-groups, and its Using for a Study of the Slavic Population. Molecule Biology. 2022. Vol. 56. No. 5. P. 860–880. (In Russ.). https://doi.org/10.31857/S0026898422050056Bukayev A., Aidarov B., Fesenko D., Saidamarova V., Ivanovsky I. et al. Genotype Data for 60 SNP Genetic Markers Associated with Eye, Hair, Skin Color, ABO Blood Group, Sex, Core Y-chromosome Haplogroups in Kazakh Population // BMC Research Notes. 2024. Vol. 17. No. 51. https://doi.org/10.1186/s13104-024-06712-zBukayev A., Aidarov B., Fesenko D., Saidamarova V., Ivanovsky I. et al. Genotype Data for 60 SNP Genetic Markers Associated with Eye, Hair, Skin Color, ABO Blood Group, Sex, Core Y-chromosome Haplogroups in Kazakh Population. BMC Research Notes. 2024. Vol. 17. No. 51. https://doi.org/10.1186/s13104-024-06712-zLippert C., Sabatini R., Maher M.C. et al. Identification of Individuals by Trait Prediction Using Whole-Genome Sequencing Data // Proceedings of the National Academy of Sciences of the United States of America. 2017. Vol. 114. No. 38. Р. 10166–10171. https://doi.org/10.1073/pnas.1716166114Lippert C., Sabatini R., Maher M.C. et al. Identification of Individuals by Trait Prediction Using Whole-Genome Sequencing Data. Proceed-ings of the National Academy of Sciences of the United States of America. 2017. Vol. 114. No. 38. P. 10166–10171. https://doi.org/10.1073/pnas.1716166114Du S., Chen J., Li J., Qian W. et al. A MultiAncestry GWAS Meta-Analysis of Facial Features and its Application in Predicting Archaic Human Features // Journal of Genetics and Genomics. 2025. Vol. 52. No. 4. P. 513–524 https://doi.org/10.1016/j.jgg.2024.07.005Du S., Chen J., Li J., Qian W. et al. A Multi-Ancestry GWAS Meta-Analysis of Facial Features and its Application in Predicting Archaic Human Features. Journal of Genetics and Genomics. 2025. Vol. 52. No. 4. P. 513–524. https://doi.org/10.1016/j.jgg.2024.07.005Alshehhi A., Mousa M., Tay G.K., Werghi N., AlSafar H. Genome Wide Association Study Reveals Novel Associations with Face Morphology // PLoS One. 2025. Vol. 10. https://doi.org/10.1371/journal.pone.0299660Alshehhi A., Mousa M., Tay G.K., Werghi N., AlSafar H. Genome Wide Association Study Reveals Novel Associations with Face Morphology. PLoS One. 2025. Vol. 10. https://doi.org/10.1371/journal.pone.0299660Jiao M., Li J., Zhong B., Du S., Li S., Zhang M., Zhang Q., Liang Z., Liu F., Zuo C., Wang S., Chen L. De Novo Reconstruction of 3D Human Facial Images from DNA Sequence // Advanced Science. 2025. Vol. 12. No. 10. https://doi.org/10.1002/advs.202414507Jiao M., Li J., Zhong B., Du S., Li S., Zhang M., Zhang Q., Liang Z., Liu F., Zuo C., Wang S., Chen L. De Novo Reconstruction of 3D Human Facial Images from DNA Sequence. Advanced Science. 2025. Vol. 12. No. 10. https://doi.org/10.1002/advs.202414507Adhikari K., Fuentes-Guajardo M., QuintoSánchez M., Mendoza-Revilla J., Camilo Chacón-Duque J. et al. A Genome-Wide Association Scan Implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in Human Facial Variation // Natural Communication. 2016. Vol. 7. 11616. https://doi.org/10.1371/journal.pone.0233377Adhikari K., Fuentes-Guajardo M., QuintoSánchez M., Mendoza-Revilla J., Camilo Chacón-Duque J. et al. A Genome-Wide Association Scan Implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in Human Facial Variation. Natural Communication. 2016. Vol. 7. 11616. https://doi.org/10.1038/ncomms11616Pantel J.T., Hajjir N., Danyel M., Elsner J., Abad-Perez A.T. et al. Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study // Journal of Medical Internet Research. 2020. Vol. 10. No. 22. https://doi.org/10.2196/19263Pantel J.T., Hajjir N., Danyel M., Elsner J., AbadPerez A.T. et al. Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals with and without a Genetic Syndrome: Diagnostic Accuracy Study. Journal of Medical Internet Research. 2020. Vol. 10. No. 22. https://doi.org/10.2196/19263

The authors declare that there are no conflicts of interest present.