{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:05:17Z","timestamp":1792782317782,"version":"4.5.0"},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T00:00:00Z","timestamp":1495756800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Science and Technology Program of Guangdong Province","award":["2014A020212354"],"award-info":[{"award-number":["2014A020212354"]}]},{"name":"Science and Technology Program of Guangdong Province","award":["2013B051000087"],"award-info":[{"award-number":["2013B051000087"]}]},{"name":"Guangdong Medicine-Science Research","award":["A2015327"],"award-info":[{"award-number":["A2015327"]}]},{"name":"Science and Technology Program of Guangzhou City","award":["201400000004-4"],"award-info":[{"award-number":["201400000004-4"]}]},{"name":"Science and Technology Program of Guangzhou City","award":["201400000003-4"],"award-info":[{"award-number":["201400000003-4"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2018,2]]},"abstract":"\n Aim<\/jats:title>\n \n To select an optimal whole\u2010genome amplification (\n WGA<\/jats:styled-content>\n ) method to improve the efficiency of the preimplantation genetic diagnosis and screening (\n PGD<\/jats:styled-content>\n \/\n PGS<\/jats:styled-content>\n ) of beta\u2010thalassaemia disorders.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Fifty\u2010seven fibroblast samples with defined beta\u2010thalassaemia variations and forty\u2010eight single\u2010blastomere samples were amplified from single\u2010, two\u2010, and five\u2010cell samples by multiple annealing and looping\u2010based amplification cycles (\n MALBAC<\/jats:styled-content>\n ) and the multiple displacement amplification (\n MDA<\/jats:styled-content>\n ) method. Low\u2010depth, high\u2010throughput sequencing was performed to evaluate and compare the coefficiencies of the chromosomal copy number variation (\n CNV<\/jats:styled-content>\n ) detection rate and the allele dropout (\n ADO<\/jats:styled-content>\n ) rate between these two methods.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n At the single\u2010cell level, the success rates of the\n CNV<\/jats:styled-content>\n detection in the fibroblast samples were 100% in the\n MALBAC<\/jats:styled-content>\n group and 91.67% in the\n MDA<\/jats:styled-content>\n group; the coefficient of variation in the\n CNV<\/jats:styled-content>\n detection in the\n MALBAC<\/jats:styled-content>\n group was significantly superior to that in the\n MDA<\/jats:styled-content>\n group (0.15 vs 0.37). The total\n ADO<\/jats:styled-content>\n rate in the\n HBB<\/jats:styled-content>\n allele detection was 4.55% in the\n MALBAC<\/jats:styled-content>\n group, which was significantly lower than the 22.5% rate observed in the\n MDA<\/jats:styled-content>\n group. However, when five or more cells were used as the starting template, the\n ADO<\/jats:styled-content>\n rate significantly decreased, and these two methods did not differ significantly.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n For the genetic diagnosis of\n HBB<\/jats:styled-content>\n gene variation at the single\u2010cell level,\n MALBAC<\/jats:styled-content>\n is a more suitable method due to its higher level of uniformity and specificity. When five or more cells are used as the starting template, both methods exhibit similar efficiency, increased accuracy, and a similar success rate in\n PGD<\/jats:styled-content>\n \/\n PGS<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/jcla.22267","type":"journal-article","created":{"date-parts":[[2017,5,26]],"date-time":"2017-05-26T08:22:54Z","timestamp":1495786974000},"source":"Crossref","is-referenced-by-count":28,"title":["The performance of\n MALBAC<\/scp>\n and\n MDA<\/scp>\n methods in the identification of concurrent mutations and aneuploidy screening to diagnose beta\u2010thalassaemia disorders at the single\u2010 and multiple\u2010cell levels"],"prefix":"10.1002","volume":"32","author":[{"given":"WeiQiang","family":"Liu","sequence":"first","affiliation":[{"name":"Key Laboratory for Major Obstetric Diseases of Guangdong Province Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes Third Affiliated Hospital of Guangzhou Medical University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HuiMin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory for Major Obstetric Diseases of Guangdong Province Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes Third Affiliated Hospital of Guangzhou Medical University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Hu","sequence":"additional","affiliation":[{"name":"Key Laboratory for Major Obstetric Diseases of Guangdong Province Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes Third Affiliated Hospital of Guangzhou Medical University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SiJia","family":"Lu","sequence":"additional","affiliation":[{"name":"Yikon Genomics Co. Ltd. Jiangsu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3308-5325","authenticated-orcid":false,"given":"XiaoFang","family":"Sun","sequence":"additional","affiliation":[{"name":"Key Laboratory for Major Obstetric Diseases of Guangdong Province Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes Third Affiliated Hospital of Guangzhou Medical University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,5,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199907083410207"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2003.014456"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)91524-X"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.6377"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh893"},{"key":"e_1_2_6_7_1","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/gm475","article-title":"Preimplantation genetic diagnosis guided by single\u2010cell genomics","volume":"5","author":"Van der Aa N","year":"2013","journal-title":"Genome Med"},{"key":"e_1_2_6_8_1","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.jgg.2016.01.003","article-title":"A new next\u2010generation sequencing\u2010based assay 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