Blood security and management of transfusion-dependent thalassaemia (TDT) patients in Nanning: analysis of " collection-based-supply" blood management mode / 中国输血杂志

【Objective】 To retrospectively analyze the blood use of transfusion-dependent thalassemia (TDT) patients in 9 designated transfusion medical institutions from 2018 to 2023 in Nanning, and to evaluate the effect of " three designated " blood transfusion mode (hereby means TDT patients undergoing blood transfusion in designated transfusion medical institutions regularly) and " collection-based-supply" blood management mode on blood security of TDT patients. 【Methods】 The " three designated" blood transfusion mode was implemented to ensure that TDT patients registered in the local household registration (referred to as the " register" ) obtain the rights and interests of outpatient transfusion and blood security of designated medical institutions. The " collection-based-supply" blood management mode was implemented to assess the blood needs of "register" TDT patients and meet their needs to the maximum extent according to the blood inventory (collection). 【Results】 From 2018 to 2023, the total blood supply of "register" TDT patients was 10.37% of the total red blood supply of all medical institutions (138 509.5 U /1 335 788.0 U), with the highest proportion of type O blood as 46.34% (64 181.0 U/138 509.5 U) and the lowest proportion of type AB blood as 3.85% (5 331.0 U/138 509.5 U). In 2018, 9 transfusion medical institutions were designated for TDT patients.There were a total of 766 TDT patients in the register, with the per capita annual blood transfusion volume increased from 20.28 U (15 531.0 U/766 patients) in 2018 to 36.01 U (27 586.0 U/766 patients) in 2023, maintaining a positive growth every year(30.26%, 4.94%, 11.71%, 8.61%, 4.94% and 7.10%). 【Conclusion】 The " three designated" blood transfusion mode and the " collection-based-supply " blood management mode can effectively guarantee the blood supply of TDT patients.

A novel CD36 mutation T538C (Trp180Arg) results in CD36 deficiency and establishment of a genotyping method for the novel mutation based on sequence-specific primer PCR / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the molecular basis for a CD36 deficiency individual and distribution of CD36 gene mutation in Guangxi population.</p><p><b>METHODS</b>A female individual was studied. CD36 phenotype was detected by monoclonal antibody immobilization of platelet antigens assay (MAIPA) and flow cytometry (FCM). The coding regions of the CD36 gene were sequenced. A DNA-based polymerase chain reaction-sequence specific primer (PCR-SSP) assay was used to verify the identified mutation. Cell lines expressing the mutant and wild-type CD36[CD36(MT) and CD36(WT)] were established, with the expression of CD36 determined by Western blotting. The distribution of CD36 gene mutation was investigated among 1010 unrelated individuals with the PCR-SSP assay.</p><p><b>RESULTS</b>Both MAIPA and FCM assays showed that the patient had type II CD36 deficiency. DNA sequencing showed that she has carried a heterozygous mutation T538C (Trp180Arg) in the exon 6 of CD36. Sequencing of cDNA clone confirmed that there was a nucleotide substitution at position 538 (538T>C). Western blotting also confirmed that the CD36 did not express on the CD36(MT) cell line that expressed the 538C mutant, but did express on the CD36(WT) cell line. The novel CD36 mutation T538C was further verified with 100% concordance of genotyping results by DNA-based PCR-SSP assay and 1010 unrelated individuals. No CD36 538C allele was detected among the 1010 individuals.</p><p><b>CONCLUSION</b>This study has identified a novel CD36 mutation T538C(Trp180Arg)(GenBank: HM217022.1), and established a genotyping method for the novel sequence-specific primer PCR. The novel mutation is rare in Guangxi and can cause type II CD36 deficiency.</p>

Observation and analysis of STR loci mutation among 1 786 cases of paternity test in Guangxi area / 重庆医学

Objective To observe and analyze the mutation characteristics of 17 STR loci among the paternity test cases in Guangxi area .Methods Among 1 786 cases of non—exclusion parentage ,1 430 cases were parental triplet and 356 cases were uniparental diad ,1 001 persons were Han people ,2 102 persons were Zhuang people and 113 persons were other ethnic group in the parents .The genome DNA was extracted by Chelex-100 method .17 short tandem repeat (STR) loci were detected by Power Plex ? 18D System Kit .The paternity testing containing mutant STR loci were screened out from 1786 cases .The locus-specific ,specificity of paternal and maternal ,and allele-specific mutation rates were observed and analyzed ,respectively .The characteristics of the muta-tions were studied .Results In total ,75 mutations events were observed at 16 of the 17 loci .Among them ,73 (97 .34% ) times were one step mutation ,onece(1 .33% ) was two—step mutation ,and once(1 .33% ) was three—step mutation ,no mutation was found at the TPOX locus .The mutation rates ranged 0 .031 1% —0 .404 2% ,and the mean mutation rate was 0 .145 8% .The proportion of the paternal mutations and the maternal mutations was 5 .4:1 .0 ,the difference had statistical significance(P0 .05) .Conclusion STR loci mutation is common phenomenon in paternity test .The data of STR loci mutations should be constantly accumulated for selecting the genetic characteristics in line with the Guangxi population and the genetic markers of STR loci with high identification ability to ensure ac-curate and reliable identification results .