Inter-Tissue Gonosomal Mosaicism in Patients with Disorders of Sex Development, Associated with Abnormalities of Gonadal Differentiation
We present results of the study to identify gonosomal mosaicism and examine its inter-tissue variability in peripheral blood lymphocytes, buccal epithelium, and gonadal tissue in patients with disorders of sex development (DSD) associated with sex chromosome abnormalities (gonosomal DSD, n = 8) and...
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| Veröffentlicht in: | Russian journal of genetics 2021-11, Vol.57 (11), p.1312-1321 |
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| container_title | Russian journal of genetics |
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| creator | Oparina, N. V. Raygorodskaya, N. Yu Latyshev, O. Yu Samsonova, L. N. Volodko, E. A. Suyazova, S. A. Chernykh, V. B. |
| description | We present results of the study to identify gonosomal mosaicism and examine its inter-tissue variability in peripheral blood lymphocytes, buccal epithelium, and gonadal tissue in patients with disorders of sex development (DSD) associated with sex chromosome abnormalities (gonosomal DSD,
n
= 8) and gonad differentiation anomalies (46,XY DSD,
n
= 10). The study used a set of methods for analyzing individual cells: karyotyping and interphase FISH. According to the study results, gonosomal mosaicism was detected in 12 (67%) of the 18 examined patients. Cryptic, isolated by gonadal tissue, somatic mosaicism with 45,X cell line was detected in 4/10 46,XY DSD group patients. True inter-tissue mosaicism with two cell lines, one of which 45,X, was detected in 8/8 gonosomal DSD group patients. We propose using a new approach for mosaicism examination and quantifying mosaic cell lines variability. For this purpose, the coefficient of variation (
CV
) was used, the range of detected values was from 2.3 to 49%. In accordance with the obtained
CV
values, the inter-tissue variability was estimated as low, moderate or high. The correlation analysis revealed a statistically significant (
p
< 0.1) inverse correlation between Prader's stage and 45,X cell line percentage in lymphocytes, buccal epithelium, and gonadal tissue, as well as a direct correlation between the 45,X cell line presence in one of the tissues and its presence in other tissues. The search for mosaicism in tissues of different histogenesis origin using a set of methods for analyzing individual cells allows us to get a more complete picture of the gonosomal constitution and reveal a hidden imbalance, which is very important in examining patients with DSD. We proposed and used in this study the coefficient of variation (
CV
), which is a convenient statistical metric for quantifying the variability of cell lines in different tissues of a single patient and a step towards standardizing the results of genetic studies. |
| doi_str_mv | 10.1134/S1022795421110107 |
| format | Article |
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n
= 8) and gonad differentiation anomalies (46,XY DSD,
n
= 10). The study used a set of methods for analyzing individual cells: karyotyping and interphase FISH. According to the study results, gonosomal mosaicism was detected in 12 (67%) of the 18 examined patients. Cryptic, isolated by gonadal tissue, somatic mosaicism with 45,X cell line was detected in 4/10 46,XY DSD group patients. True inter-tissue mosaicism with two cell lines, one of which 45,X, was detected in 8/8 gonosomal DSD group patients. We propose using a new approach for mosaicism examination and quantifying mosaic cell lines variability. For this purpose, the coefficient of variation (
CV
) was used, the range of detected values was from 2.3 to 49%. In accordance with the obtained
CV
values, the inter-tissue variability was estimated as low, moderate or high. The correlation analysis revealed a statistically significant (
p
< 0.1) inverse correlation between Prader's stage and 45,X cell line percentage in lymphocytes, buccal epithelium, and gonadal tissue, as well as a direct correlation between the 45,X cell line presence in one of the tissues and its presence in other tissues. The search for mosaicism in tissues of different histogenesis origin using a set of methods for analyzing individual cells allows us to get a more complete picture of the gonosomal constitution and reveal a hidden imbalance, which is very important in examining patients with DSD. We proposed and used in this study the coefficient of variation (
CV
), which is a convenient statistical metric for quantifying the variability of cell lines in different tissues of a single patient and a step towards standardizing the results of genetic studies.</description><identifier>ISSN: 1022-7954</identifier><identifier>EISSN: 1608-3369</identifier><identifier>DOI: 10.1134/S1022795421110107</identifier><language>eng</language><publisher>Moscow: Pleiades Publishing</publisher><subject>Animal Genetics and Genomics ; Biomedical and Life Sciences ; Biomedicine ; Human Genetics ; Microbial Genetics and Genomics</subject><ispartof>Russian journal of genetics, 2021-11, Vol.57 (11), p.1312-1321</ispartof><rights>Pleiades Publishing, Inc. 2021. ISSN 1022-7954, Russian Journal of Genetics, 2021, Vol. 57, No. 11, pp. 1312–1321. © Pleiades Publishing, Inc., 2021. Russian Text © The Author(s), 2021, published in Genetika, 2021, Vol. 57, No. 11, pp. 1306–1317.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c288t-dc7f353d052e12834b236b5ba847542c33b2fea03d6d177ed3c290b5af4325603</citedby><cites>FETCH-LOGICAL-c288t-dc7f353d052e12834b236b5ba847542c33b2fea03d6d177ed3c290b5af4325603</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1134/S1022795421110107$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1134/S1022795421110107$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids></links><search><creatorcontrib>Oparina, N. V.</creatorcontrib><creatorcontrib>Raygorodskaya, N. Yu</creatorcontrib><creatorcontrib>Latyshev, O. Yu</creatorcontrib><creatorcontrib>Samsonova, L. N.</creatorcontrib><creatorcontrib>Volodko, E. A.</creatorcontrib><creatorcontrib>Suyazova, S. A.</creatorcontrib><creatorcontrib>Chernykh, V. B.</creatorcontrib><title>Inter-Tissue Gonosomal Mosaicism in Patients with Disorders of Sex Development, Associated with Abnormalities of Gonadal Differentiation</title><title>Russian journal of genetics</title><addtitle>Russ J Genet</addtitle><description>We present results of the study to identify gonosomal mosaicism and examine its inter-tissue variability in peripheral blood lymphocytes, buccal epithelium, and gonadal tissue in patients with disorders of sex development (DSD) associated with sex chromosome abnormalities (gonosomal DSD,
n
= 8) and gonad differentiation anomalies (46,XY DSD,
n
= 10). The study used a set of methods for analyzing individual cells: karyotyping and interphase FISH. According to the study results, gonosomal mosaicism was detected in 12 (67%) of the 18 examined patients. Cryptic, isolated by gonadal tissue, somatic mosaicism with 45,X cell line was detected in 4/10 46,XY DSD group patients. True inter-tissue mosaicism with two cell lines, one of which 45,X, was detected in 8/8 gonosomal DSD group patients. We propose using a new approach for mosaicism examination and quantifying mosaic cell lines variability. For this purpose, the coefficient of variation (
CV
) was used, the range of detected values was from 2.3 to 49%. In accordance with the obtained
CV
values, the inter-tissue variability was estimated as low, moderate or high. The correlation analysis revealed a statistically significant (
p
< 0.1) inverse correlation between Prader's stage and 45,X cell line percentage in lymphocytes, buccal epithelium, and gonadal tissue, as well as a direct correlation between the 45,X cell line presence in one of the tissues and its presence in other tissues. The search for mosaicism in tissues of different histogenesis origin using a set of methods for analyzing individual cells allows us to get a more complete picture of the gonosomal constitution and reveal a hidden imbalance, which is very important in examining patients with DSD. We proposed and used in this study the coefficient of variation (
CV
), which is a convenient statistical metric for quantifying the variability of cell lines in different tissues of a single patient and a step towards standardizing the results of genetic studies.</description><subject>Animal Genetics and Genomics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Human Genetics</subject><subject>Microbial Genetics and Genomics</subject><issn>1022-7954</issn><issn>1608-3369</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNp9kNtKAzEQhoMoWKsP4F0ewNUc9tTL0motVBRar5dsMtGUblIyWw9v4GObWu8Er2Zgvu-fZAi55Oyac5nfLDkTohoVueCcM86qIzLgJaszKcvRcerTONvPT8kZ4polhJVyQL7mvoeYrRziDugs-IChUxv6EFA57bCjztMn1TvwPdJ317_SqcMQDUSkwdIlfNApvMEmbLuEXNExYtBO9WAO9Lj1IaZElyJ-jLRDmbRh6qyFmJwEu-DPyYlVG4SL3zokz3e3q8l9tniczSfjRaZFXfeZ0ZWVhTSsEMBFLfNWyLItWlXnVfq8lrIVFhSTpjS8qsBILUasLZTNpShKJoeEH3J1DIgRbLONrlPxs-Gs2Z-y-XPK5IiDg4n1LxCbddhFn575j_QN9lF3vg</recordid><startdate>20211101</startdate><enddate>20211101</enddate><creator>Oparina, N. V.</creator><creator>Raygorodskaya, N. Yu</creator><creator>Latyshev, O. Yu</creator><creator>Samsonova, L. N.</creator><creator>Volodko, E. A.</creator><creator>Suyazova, S. A.</creator><creator>Chernykh, V. B.</creator><general>Pleiades Publishing</general><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>20211101</creationdate><title>Inter-Tissue Gonosomal Mosaicism in Patients with Disorders of Sex Development, Associated with Abnormalities of Gonadal Differentiation</title><author>Oparina, N. V. ; Raygorodskaya, N. Yu ; Latyshev, O. Yu ; Samsonova, L. N. ; Volodko, E. A. ; Suyazova, S. A. ; Chernykh, V. B.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c288t-dc7f353d052e12834b236b5ba847542c33b2fea03d6d177ed3c290b5af4325603</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Animal Genetics and Genomics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Human Genetics</topic><topic>Microbial Genetics and Genomics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Oparina, N. V.</creatorcontrib><creatorcontrib>Raygorodskaya, N. Yu</creatorcontrib><creatorcontrib>Latyshev, O. Yu</creatorcontrib><creatorcontrib>Samsonova, L. N.</creatorcontrib><creatorcontrib>Volodko, E. A.</creatorcontrib><creatorcontrib>Suyazova, S. A.</creatorcontrib><creatorcontrib>Chernykh, V. B.</creatorcontrib><collection>CrossRef</collection><jtitle>Russian journal of genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Oparina, N. V.</au><au>Raygorodskaya, N. Yu</au><au>Latyshev, O. Yu</au><au>Samsonova, L. N.</au><au>Volodko, E. A.</au><au>Suyazova, S. A.</au><au>Chernykh, V. B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Inter-Tissue Gonosomal Mosaicism in Patients with Disorders of Sex Development, Associated with Abnormalities of Gonadal Differentiation</atitle><jtitle>Russian journal of genetics</jtitle><stitle>Russ J Genet</stitle><date>2021-11-01</date><risdate>2021</risdate><volume>57</volume><issue>11</issue><spage>1312</spage><epage>1321</epage><pages>1312-1321</pages><issn>1022-7954</issn><eissn>1608-3369</eissn><abstract>We present results of the study to identify gonosomal mosaicism and examine its inter-tissue variability in peripheral blood lymphocytes, buccal epithelium, and gonadal tissue in patients with disorders of sex development (DSD) associated with sex chromosome abnormalities (gonosomal DSD,
n
= 8) and gonad differentiation anomalies (46,XY DSD,
n
= 10). The study used a set of methods for analyzing individual cells: karyotyping and interphase FISH. According to the study results, gonosomal mosaicism was detected in 12 (67%) of the 18 examined patients. Cryptic, isolated by gonadal tissue, somatic mosaicism with 45,X cell line was detected in 4/10 46,XY DSD group patients. True inter-tissue mosaicism with two cell lines, one of which 45,X, was detected in 8/8 gonosomal DSD group patients. We propose using a new approach for mosaicism examination and quantifying mosaic cell lines variability. For this purpose, the coefficient of variation (
CV
) was used, the range of detected values was from 2.3 to 49%. In accordance with the obtained
CV
values, the inter-tissue variability was estimated as low, moderate or high. The correlation analysis revealed a statistically significant (
p
< 0.1) inverse correlation between Prader's stage and 45,X cell line percentage in lymphocytes, buccal epithelium, and gonadal tissue, as well as a direct correlation between the 45,X cell line presence in one of the tissues and its presence in other tissues. The search for mosaicism in tissues of different histogenesis origin using a set of methods for analyzing individual cells allows us to get a more complete picture of the gonosomal constitution and reveal a hidden imbalance, which is very important in examining patients with DSD. We proposed and used in this study the coefficient of variation (
CV
), which is a convenient statistical metric for quantifying the variability of cell lines in different tissues of a single patient and a step towards standardizing the results of genetic studies.</abstract><cop>Moscow</cop><pub>Pleiades Publishing</pub><doi>10.1134/S1022795421110107</doi><tpages>10</tpages></addata></record> |
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| subjects | Animal Genetics and Genomics Biomedical and Life Sciences Biomedicine Human Genetics Microbial Genetics and Genomics |
| title | Inter-Tissue Gonosomal Mosaicism in Patients with Disorders of Sex Development, Associated with Abnormalities of Gonadal Differentiation |
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