{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T10:08:28Z","timestamp":1782382108770,"version":"3.54.5"},"reference-count":19,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Hered"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Objectives:&lt;\/i&gt;&lt;\/b&gt; To estimate the prevalence and mutation types of G6PD deficiency and evaluate the relationship between &lt;i&gt;G6PD&lt;\/i&gt; genotypes and erythrocyte phenotypes in the Dai and Jingpo ethnic groups in the Dehong prefecture of the Yunnan province, China. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; G6PD deficiency was screened in Dai (1,530 individuals) and Jingpo (372 individuals) populations using a modified G6PD\/6PGD ratio assay. Red blood cell traits were analyzed using the Sysmex XE2100 fully automated blood analyzer. PCR-direct sequencing for &lt;i&gt;G6PD &lt;\/i&gt;genotyping analysis was performed, and then the linkage disequilibrium blocks of the target SNPs were constructed with Haploview 4.2 software. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; The prevalence of G6PD deficiency was higher in the Dai ethnic group (8.63%) than in the Jingpo ethnic group (5.91%). The major mutations in descending order were rs137852314 G&gt;A, rs72554664 G&gt;A, rs72554665 G&gt;T, and rs137852341 G&gt;T. Hemoglobin concentration was significantly lower in the rs137852314 G&gt;A group than in the normal group (&lt;i&gt;p&lt;\/i&gt; = 0.021). Mean corpuscular volume and mean corpuscular hemoglobin were substantially higher in the rs137852341 G&gt;T group compared to the normal group (&lt;i&gt;p&lt;\/i&gt; = 0.049,&lt;i&gt; p&lt;\/i&gt; = 0.042). A linkage disequilibrium block of 13 SNPs was constructed for the G6PD deficiency group from the Dai sample. &lt;b&gt;&lt;i&gt;Conclusions&lt;\/i&gt;&lt;\/b&gt;: The Dai and Jingpo ethnic groups have distinctive incidence rates and gene frequencies of G6PD deficiency, and the genotypes of G6PD deficiency are associated with erythrocyte phenotypes.<\/jats:p>","DOI":"10.1159\/000489009","type":"journal-article","created":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T21:01:48Z","timestamp":1527886908000},"page":"55-64","source":"Crossref","is-referenced-by-count":15,"title":["Prevalence and Molecular Study of G6PD Deficiency in the Dai and Jingpo Ethnic Groups in the Dehong Prefecture of the Yunnan Province"],"prefix":"10.1159","volume":"83","author":[{"given":"Ming","family":"He","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youguang","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Licun","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingcheng","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shude","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiying","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2018,6,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/iub.1017"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.3109\/10715762.2014.913788"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90465-Q"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60073-2"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2007-04-077412"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/376246a0"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.0040066"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0007246"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-3026(15)00191-X"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3109\/03630269.2012.717327"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.02.042"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0126-5"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s10528-011-9455-3"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.4269\/ajtmh.2012.12-0217"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1086\/432519"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)78273-8"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0134593"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.155"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1126\/science.1178849"}],"container-title":["Human Heredity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/489009","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/489009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:25:08Z","timestamp":1745425508000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000489009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":19,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2018,11,27]]},"published-print":{"date-parts":[[2018,11,29]]}},"URL":"https:\/\/doi.org\/10.1159\/000489009","archive":["Portico"],"relation":{},"ISSN":["0001-5652","1423-0062"],"issn-type":[{"value":"0001-5652","type":"print"},{"value":"1423-0062","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}