Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta
High-resolution melting (HRM) analysis has been shown to be a time-saving method for the screening of genetic variants. To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore COL1A1 / COL1A2 mutations in 87 Chinese OI patients and to perform population-bas...
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| Veröffentlicht in: | Journal of bone and mineral metabolism 2020-03, Vol.38 (2), p.188-197 |
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| creator | Ju, Mingyan Bai, Xue Zhang, Tianke Lin, Yunshou Yang, Li Zhou, Huaiyu Chang, Xiaoli Guan, Shizhen Ren, Xiuzhi Li, Keqiu Wang, Yi Li, Guang |
| description | High-resolution melting (HRM) analysis has been shown to be a time-saving method for the screening of genetic variants. To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore
COL1A1
/
COL1A2
mutations in 87 Chinese OI patients and to perform population-based studies of the relationships between their genotypes and phenotypes. Peripheral blood samples were collected from the 87 non-consanguineous probands. The coding regions and exon boundaries of
COL1A1/COL1A2
were detected by HRM and confirmed by Sanger sequencing. The functional effects of mutations were predicted through bioinformatic tools. Mutations were detected in 70.3% of familial cases and 40% of sporadic cases (
p
|
| doi_str_mv | 10.1007/s00774-019-01039-3 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2273777072</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2272986254</sourcerecordid><originalsourceid>FETCH-LOGICAL-c399t-bf61408575e0de8b8999823bb400af8ad3ada38c6f20b24f924bdb8841853193</originalsourceid><addsrcrecordid>eNp9kU9v1DAQxS0EokvhC3BAkbhwCfW_rO1jtYKCtKiX3i07mey6SuLgcYT22G-Om21B4sDBnsP7vTcaPULeM_qZUaqusHxK1pSZ8qgwtXhBNkyKpm62VL4kG2qYrLVS5oK8QbynlKlGsdfkQjDJJNdiQx5-LNnlEKcKZ2hzWsYq9tXuds-u2dU6eIVtApjCdKj8qTqGw7FOgHFYVtsIQ36U3OSGEwZc7ccwAUI1l2SYMla_Qj5WETPEAxSlUGGcIfVlo3tLXvVuQHj3NC_J3dcvd7tv9f725vvuel-3wphc-37LJNWNaoB2oL02xmguvJeUul67TrjOCd1ue049l73h0ndea8l0I5gRl-TTOXZO8ecCmO0YsIVhcBPEBS3nSiilqOIF_fgPeh-XVO5bKW70ljeyUPxMtSkiJujtnMLo0skyah_7sed-bOnHrv1YUUwfnqIXP0L3x_JcSAHEGcAiTQdIf3f_J_Y3heybZQ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2272986254</pqid></control><display><type>article</type><title>Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta</title><source>SpringerNature Journals</source><creator>Ju, Mingyan ; Bai, Xue ; Zhang, Tianke ; Lin, Yunshou ; Yang, Li ; Zhou, Huaiyu ; Chang, Xiaoli ; Guan, Shizhen ; Ren, Xiuzhi ; Li, Keqiu ; Wang, Yi ; Li, Guang</creator><creatorcontrib>Ju, Mingyan ; Bai, Xue ; Zhang, Tianke ; Lin, Yunshou ; Yang, Li ; Zhou, Huaiyu ; Chang, Xiaoli ; Guan, Shizhen ; Ren, Xiuzhi ; Li, Keqiu ; Wang, Yi ; Li, Guang</creatorcontrib><description>High-resolution melting (HRM) analysis has been shown to be a time-saving method for the screening of genetic variants. To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore
COL1A1
/
COL1A2
mutations in 87 Chinese OI patients and to perform population-based studies of the relationships between their genotypes and phenotypes. Peripheral blood samples were collected from the 87 non-consanguineous probands. The coding regions and exon boundaries of
COL1A1/COL1A2
were detected by HRM and confirmed by Sanger sequencing. The functional effects of mutations were predicted through bioinformatic tools. Mutations were detected in 70.3% of familial cases and 40% of sporadic cases (
p
< 0.01). Compared with
COL1A1
mutations, patients with
COL1A2
mutations were more prone to severe phenotypes. Helical mutations (caused by substitution of the glycine within the Gly–X–Y triplet domain) were more likely to occur in patients with type III and IV (
p
< 0.05). Haploinsufficiency mutations (caused by frameshift, nonsense, and splice-site mutations) appeared more frequently in patients with type I (
p
< 0.05). Compared with the Sanger sequencing and whole exome sequencing (WES), HRM was found to reduce total costs by 78%– 80% in patients who had a positive HRM separate melting curve. Our findings suggest that HRM would greatly benefit small and understaffed hospitals and laboratories, and would facilitate the accurate diagnosis and early treatment of OI in remote and less developed regions.</description><identifier>ISSN: 0914-8779</identifier><identifier>EISSN: 1435-5604</identifier><identifier>DOI: 10.1007/s00774-019-01039-3</identifier><identifier>PMID: 31414283</identifier><language>eng</language><publisher>Singapore: Springer Singapore</publisher><subject>Collagen (type I) ; Diagnosis ; Frameshift mutation ; Genetic analysis ; Genetic diversity ; Genetic screening ; Genotypes ; Glycine ; Haploinsufficiency ; Medicine ; Medicine & Public Health ; Melting curve ; Metabolic Diseases ; Mutation ; Original Article ; Orthopedics ; Osteogenesis ; Osteogenesis imperfecta ; Patients ; Peripheral blood ; Phenotypes ; Population studies</subject><ispartof>Journal of bone and mineral metabolism, 2020-03, Vol.38 (2), p.188-197</ispartof><rights>The Japanese Society Bone and Mineral Research and Springer Japan KK, part of Springer Nature 2019</rights><rights>Journal of Bone and Mineral Metabolism is a copyright of Springer, (2019). All Rights Reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c399t-bf61408575e0de8b8999823bb400af8ad3ada38c6f20b24f924bdb8841853193</citedby><cites>FETCH-LOGICAL-c399t-bf61408575e0de8b8999823bb400af8ad3ada38c6f20b24f924bdb8841853193</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00774-019-01039-3$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00774-019-01039-3$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/31414283$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ju, Mingyan</creatorcontrib><creatorcontrib>Bai, Xue</creatorcontrib><creatorcontrib>Zhang, Tianke</creatorcontrib><creatorcontrib>Lin, Yunshou</creatorcontrib><creatorcontrib>Yang, Li</creatorcontrib><creatorcontrib>Zhou, Huaiyu</creatorcontrib><creatorcontrib>Chang, Xiaoli</creatorcontrib><creatorcontrib>Guan, Shizhen</creatorcontrib><creatorcontrib>Ren, Xiuzhi</creatorcontrib><creatorcontrib>Li, Keqiu</creatorcontrib><creatorcontrib>Wang, Yi</creatorcontrib><creatorcontrib>Li, Guang</creatorcontrib><title>Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta</title><title>Journal of bone and mineral metabolism</title><addtitle>J Bone Miner Metab</addtitle><addtitle>J Bone Miner Metab</addtitle><description>High-resolution melting (HRM) analysis has been shown to be a time-saving method for the screening of genetic variants. To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore
COL1A1
/
COL1A2
mutations in 87 Chinese OI patients and to perform population-based studies of the relationships between their genotypes and phenotypes. Peripheral blood samples were collected from the 87 non-consanguineous probands. The coding regions and exon boundaries of
COL1A1/COL1A2
were detected by HRM and confirmed by Sanger sequencing. The functional effects of mutations were predicted through bioinformatic tools. Mutations were detected in 70.3% of familial cases and 40% of sporadic cases (
p
< 0.01). Compared with
COL1A1
mutations, patients with
COL1A2
mutations were more prone to severe phenotypes. Helical mutations (caused by substitution of the glycine within the Gly–X–Y triplet domain) were more likely to occur in patients with type III and IV (
p
< 0.05). Haploinsufficiency mutations (caused by frameshift, nonsense, and splice-site mutations) appeared more frequently in patients with type I (
p
< 0.05). Compared with the Sanger sequencing and whole exome sequencing (WES), HRM was found to reduce total costs by 78%– 80% in patients who had a positive HRM separate melting curve. Our findings suggest that HRM would greatly benefit small and understaffed hospitals and laboratories, and would facilitate the accurate diagnosis and early treatment of OI in remote and less developed regions.</description><subject>Collagen (type I)</subject><subject>Diagnosis</subject><subject>Frameshift mutation</subject><subject>Genetic analysis</subject><subject>Genetic diversity</subject><subject>Genetic screening</subject><subject>Genotypes</subject><subject>Glycine</subject><subject>Haploinsufficiency</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Melting curve</subject><subject>Metabolic Diseases</subject><subject>Mutation</subject><subject>Original Article</subject><subject>Orthopedics</subject><subject>Osteogenesis</subject><subject>Osteogenesis imperfecta</subject><subject>Patients</subject><subject>Peripheral blood</subject><subject>Phenotypes</subject><subject>Population studies</subject><issn>0914-8779</issn><issn>1435-5604</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kU9v1DAQxS0EokvhC3BAkbhwCfW_rO1jtYKCtKiX3i07mey6SuLgcYT22G-Om21B4sDBnsP7vTcaPULeM_qZUaqusHxK1pSZ8qgwtXhBNkyKpm62VL4kG2qYrLVS5oK8QbynlKlGsdfkQjDJJNdiQx5-LNnlEKcKZ2hzWsYq9tXuds-u2dU6eIVtApjCdKj8qTqGw7FOgHFYVtsIQ36U3OSGEwZc7ccwAUI1l2SYMla_Qj5WETPEAxSlUGGcIfVlo3tLXvVuQHj3NC_J3dcvd7tv9f725vvuel-3wphc-37LJNWNaoB2oL02xmguvJeUul67TrjOCd1ue049l73h0ndea8l0I5gRl-TTOXZO8ecCmO0YsIVhcBPEBS3nSiilqOIF_fgPeh-XVO5bKW70ljeyUPxMtSkiJujtnMLo0skyah_7sed-bOnHrv1YUUwfnqIXP0L3x_JcSAHEGcAiTQdIf3f_J_Y3heybZQ</recordid><startdate>20200301</startdate><enddate>20200301</enddate><creator>Ju, Mingyan</creator><creator>Bai, Xue</creator><creator>Zhang, Tianke</creator><creator>Lin, Yunshou</creator><creator>Yang, Li</creator><creator>Zhou, Huaiyu</creator><creator>Chang, Xiaoli</creator><creator>Guan, Shizhen</creator><creator>Ren, Xiuzhi</creator><creator>Li, Keqiu</creator><creator>Wang, Yi</creator><creator>Li, Guang</creator><general>Springer Singapore</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20200301</creationdate><title>Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta</title><author>Ju, Mingyan ; Bai, Xue ; Zhang, Tianke ; Lin, Yunshou ; Yang, Li ; Zhou, Huaiyu ; Chang, Xiaoli ; Guan, Shizhen ; Ren, Xiuzhi ; Li, Keqiu ; Wang, Yi ; Li, Guang</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c399t-bf61408575e0de8b8999823bb400af8ad3ada38c6f20b24f924bdb8841853193</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Collagen (type I)</topic><topic>Diagnosis</topic><topic>Frameshift mutation</topic><topic>Genetic analysis</topic><topic>Genetic diversity</topic><topic>Genetic screening</topic><topic>Genotypes</topic><topic>Glycine</topic><topic>Haploinsufficiency</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Melting curve</topic><topic>Metabolic Diseases</topic><topic>Mutation</topic><topic>Original Article</topic><topic>Orthopedics</topic><topic>Osteogenesis</topic><topic>Osteogenesis imperfecta</topic><topic>Patients</topic><topic>Peripheral blood</topic><topic>Phenotypes</topic><topic>Population studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ju, Mingyan</creatorcontrib><creatorcontrib>Bai, Xue</creatorcontrib><creatorcontrib>Zhang, Tianke</creatorcontrib><creatorcontrib>Lin, Yunshou</creatorcontrib><creatorcontrib>Yang, Li</creatorcontrib><creatorcontrib>Zhou, Huaiyu</creatorcontrib><creatorcontrib>Chang, Xiaoli</creatorcontrib><creatorcontrib>Guan, Shizhen</creatorcontrib><creatorcontrib>Ren, Xiuzhi</creatorcontrib><creatorcontrib>Li, Keqiu</creatorcontrib><creatorcontrib>Wang, Yi</creatorcontrib><creatorcontrib>Li, Guang</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of bone and mineral metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ju, Mingyan</au><au>Bai, Xue</au><au>Zhang, Tianke</au><au>Lin, Yunshou</au><au>Yang, Li</au><au>Zhou, Huaiyu</au><au>Chang, Xiaoli</au><au>Guan, Shizhen</au><au>Ren, Xiuzhi</au><au>Li, Keqiu</au><au>Wang, Yi</au><au>Li, Guang</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta</atitle><jtitle>Journal of bone and mineral metabolism</jtitle><stitle>J Bone Miner Metab</stitle><addtitle>J Bone Miner Metab</addtitle><date>2020-03-01</date><risdate>2020</risdate><volume>38</volume><issue>2</issue><spage>188</spage><epage>197</epage><pages>188-197</pages><issn>0914-8779</issn><eissn>1435-5604</eissn><abstract>High-resolution melting (HRM) analysis has been shown to be a time-saving method for the screening of genetic variants. To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore
COL1A1
/
COL1A2
mutations in 87 Chinese OI patients and to perform population-based studies of the relationships between their genotypes and phenotypes. Peripheral blood samples were collected from the 87 non-consanguineous probands. The coding regions and exon boundaries of
COL1A1/COL1A2
were detected by HRM and confirmed by Sanger sequencing. The functional effects of mutations were predicted through bioinformatic tools. Mutations were detected in 70.3% of familial cases and 40% of sporadic cases (
p
< 0.01). Compared with
COL1A1
mutations, patients with
COL1A2
mutations were more prone to severe phenotypes. Helical mutations (caused by substitution of the glycine within the Gly–X–Y triplet domain) were more likely to occur in patients with type III and IV (
p
< 0.05). Haploinsufficiency mutations (caused by frameshift, nonsense, and splice-site mutations) appeared more frequently in patients with type I (
p
< 0.05). Compared with the Sanger sequencing and whole exome sequencing (WES), HRM was found to reduce total costs by 78%– 80% in patients who had a positive HRM separate melting curve. Our findings suggest that HRM would greatly benefit small and understaffed hospitals and laboratories, and would facilitate the accurate diagnosis and early treatment of OI in remote and less developed regions.</abstract><cop>Singapore</cop><pub>Springer Singapore</pub><pmid>31414283</pmid><doi>10.1007/s00774-019-01039-3</doi><tpages>10</tpages></addata></record> |
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| source | SpringerNature Journals |
| subjects | Collagen (type I) Diagnosis Frameshift mutation Genetic analysis Genetic diversity Genetic screening Genotypes Glycine Haploinsufficiency Medicine Medicine & Public Health Melting curve Metabolic Diseases Mutation Original Article Orthopedics Osteogenesis Osteogenesis imperfecta Patients Peripheral blood Phenotypes Population studies |
| title | Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta |
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