Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China
Objectives At present, most genetic tests or carrier screening are performed with blood samples, and the known carrier rate of disease-causing variants is also derived from blood. For semen donors, what is really passed on to offspring is the pathogenic variant in their sperm. This study aimed to de...
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2025-12-01
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| Series: | Annals of Medicine |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/07853890.2024.2447421 |
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| author | Chuan Huang Li-Ming Chu Bo Liang Hui-Lan Wu Bai-Shun Li Shuai Ren Mei-Ling Hou Hong-Chuan Nie Ling-Yin Kong Li-Qing Fan Juan Du Wen-Bing Zhu |
| author_facet | Chuan Huang Li-Ming Chu Bo Liang Hui-Lan Wu Bai-Shun Li Shuai Ren Mei-Ling Hou Hong-Chuan Nie Ling-Yin Kong Li-Qing Fan Juan Du Wen-Bing Zhu |
| author_sort | Chuan Huang |
| collection | DOAJ |
| description | Objectives At present, most genetic tests or carrier screening are performed with blood samples, and the known carrier rate of disease-causing variants is also derived from blood. For semen donors, what is really passed on to offspring is the pathogenic variant in their sperm. This study aimed to determine whether pathogenic variants identified in the sperm of young semen donors are also present in their blood, and whether matching results for blood are consistent with results for sperm.Methods We included 40 paired sperm and blood samples from 40 qualified semen donors at the Hunan Province Human Sperm Bank of China. All samples underwent exome sequencing (ES) analysis, and the pathogenicity was assessed according to the American College of Medical Genetics (ACMG) guidelines. Scoring for sperm donation matching, which was based on gene scoring and variant scoring, was also used to assess the consistency of sperm and blood genetic test results.Results A total of 108 pathogenic (P)/likely pathogenic (LP) variants in 82 genes were identified. The highest carrier had 7 variants, and there was also one donor did not carry any P/LP variant. On average, each donor carried 2.7 P/LP variants. Among all the P/LP variants, missense mutation was the dominant type and most of them were located in exonic regions. Chromosome 1 harboured the largest number of variants and no pathogenic copy number variants (CNV) was identified in semen donors. The P/LP variant of all the 40 semen donors was consistent by comparing sperm and blood. Except for one case that was slightly different, the rest simulated matching results for blood were all consistent with results for sperm.Conclusions It is reasonable to choose either blood or sperm for genetic screening in semen donors. |
| format | Article |
| id | doaj-art-f85e7dfba5114fe4be47612e1ddb612b |
| institution | Kabale University |
| issn | 0785-3890 1365-2060 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Annals of Medicine |
| spelling | doaj-art-f85e7dfba5114fe4be47612e1ddb612b2025-01-06T09:44:51ZengTaylor & Francis GroupAnnals of Medicine0785-38901365-20602025-12-0157110.1080/07853890.2024.2447421Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, ChinaChuan Huang0Li-Ming Chu1Bo Liang2Hui-Lan Wu3Bai-Shun Li4Shuai Ren5Mei-Ling Hou6Hong-Chuan Nie7Ling-Yin Kong8Li-Qing Fan9Juan Du10Wen-Bing Zhu11Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive & Genetic Hospital of International Trust and Investment Corporation (CITIC)-Xiangya, Changsha, ChinaBasecare Medical Device Co., Ltd, Suzhou, ChinaState Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, ChinaClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive & Genetic Hospital of International Trust and Investment Corporation (CITIC)-Xiangya, Changsha, ChinaClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive & Genetic Hospital of International Trust and Investment Corporation (CITIC)-Xiangya, Changsha, ChinaBasecare Medical Device Co., Ltd, Suzhou, ChinaBasecare Medical Device Co., Ltd, Suzhou, ChinaClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive & Genetic Hospital of International Trust and Investment Corporation (CITIC)-Xiangya, Changsha, ChinaBasecare Medical Device Co., Ltd, Suzhou, ChinaClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive & Genetic Hospital of International Trust and Investment Corporation (CITIC)-Xiangya, Changsha, ChinaClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive & Genetic Hospital of International Trust and Investment Corporation (CITIC)-Xiangya, Changsha, ChinaClinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive & Genetic Hospital of International Trust and Investment Corporation (CITIC)-Xiangya, Changsha, ChinaObjectives At present, most genetic tests or carrier screening are performed with blood samples, and the known carrier rate of disease-causing variants is also derived from blood. For semen donors, what is really passed on to offspring is the pathogenic variant in their sperm. This study aimed to determine whether pathogenic variants identified in the sperm of young semen donors are also present in their blood, and whether matching results for blood are consistent with results for sperm.Methods We included 40 paired sperm and blood samples from 40 qualified semen donors at the Hunan Province Human Sperm Bank of China. All samples underwent exome sequencing (ES) analysis, and the pathogenicity was assessed according to the American College of Medical Genetics (ACMG) guidelines. Scoring for sperm donation matching, which was based on gene scoring and variant scoring, was also used to assess the consistency of sperm and blood genetic test results.Results A total of 108 pathogenic (P)/likely pathogenic (LP) variants in 82 genes were identified. The highest carrier had 7 variants, and there was also one donor did not carry any P/LP variant. On average, each donor carried 2.7 P/LP variants. Among all the P/LP variants, missense mutation was the dominant type and most of them were located in exonic regions. Chromosome 1 harboured the largest number of variants and no pathogenic copy number variants (CNV) was identified in semen donors. The P/LP variant of all the 40 semen donors was consistent by comparing sperm and blood. Except for one case that was slightly different, the rest simulated matching results for blood were all consistent with results for sperm.Conclusions It is reasonable to choose either blood or sperm for genetic screening in semen donors.https://www.tandfonline.com/doi/10.1080/07853890.2024.2447421Sperm donorgenetic analysiswhole-exome sequencingspermblood |
| spellingShingle | Chuan Huang Li-Ming Chu Bo Liang Hui-Lan Wu Bai-Shun Li Shuai Ren Mei-Ling Hou Hong-Chuan Nie Ling-Yin Kong Li-Qing Fan Juan Du Wen-Bing Zhu Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China Annals of Medicine Sperm donor genetic analysis whole-exome sequencing sperm blood |
| title | Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China |
| title_full | Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China |
| title_fullStr | Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China |
| title_full_unstemmed | Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China |
| title_short | Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China |
| title_sort | comparative genetic analysis of blood and semen samples in sperm donors from hunan china |
| topic | Sperm donor genetic analysis whole-exome sequencing sperm blood |
| url | https://www.tandfonline.com/doi/10.1080/07853890.2024.2447421 |
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