{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T21:01:40Z","timestamp":1773003700260,"version":"3.50.1"},"reference-count":11,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:p>\n                    <jats:bold>Aims:<\/jats:bold>\n                    To identify a novel \u03b2\u00a0globin gene mutation found in a Chinese family, and also to assess its functional consequences.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods:<\/jats:bold>\n                    Haematological analysis was performed on all family members. The 23 common mutations of \u03b2\u00a0thalassaemia found in Chinese populations were detected by means of a reverse dot blot method. Direct DNA sequencing of polymerase chain reaction (PCR) amplified complete \u03b2\u00a0globin gene was carried out to identify the novel mutation. A real time, one step reverse transcription PCR assay was used to measure \u03b2\u00a0globin mRNA in the reticulocytes of heterozygous patients.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results:<\/jats:bold>\n                    A novel frameshift mutation\u2014an insertion of G between codons 15 and 16 in a homonucleotide run of four guanines\u2014was determined, which generates a new premature chain terminator at the 22nd codon. Relative quantitative analysis of the \u03b2\u00a0globin mRNA in heterozygous subjects demonstrated a 39.83% reduction compared normal controls.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    The significantly lower amounts of \u03b2\u00a0globin mRNA found in mutation carriers is probably caused by the rapid nonsense mediated degradation of the mutant mRNA. These data, combined with haematological analysis, suggest that this novel mutation of CDs15\/16 (+G) results in a \u03b2\n                    <jats:sup>0<\/jats:sup>\n                    \u00a0thalassaemia phenotype.\n                  <\/jats:p>","DOI":"10.1136\/jcp.2004.025296","type":"journal-article","created":{"date-parts":[[2005,8,26]],"date-time":"2005-08-26T13:43:10Z","timestamp":1125063790000},"page":"923-926","source":"Crossref","is-referenced-by-count":11,"title":["A novel frameshift mutation (+G) at codons 15\/16 in a \u03b2\n                    <sup>0<\/sup>\n                    \u00a0thalassaemia gene results in a significant reduction of \u03b2\u00a0globin mRNA values"],"prefix":"10.1136","volume":"58","author":[{"given":"Q-H","family":"Mo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X-R","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C-F","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y-L","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X-M","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2005,8,26]]},"reference":[{"key":"2025121400545085000_58.9.923.1","doi-asserted-by":"crossref","unstructured":"Weatherall DJ, Clegg JB. 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