重庆市人类精子库488例捐精志愿者地中海贫血筛查情况及基因型分析

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【中图分类号】R69【文献标志码】A【收稿日期】2024-12-09

Thalassemia screening and genotype analysis in 488 sperm donors in Chongqing Human Sperm Bank

ShengWeiqiong，HuangJing，ZhangTianfeng，ZhangYi，HuangHua， Wang Hong，Jia Guoqing，Kang Chengjiang

（Human Sperm Bank，Chongqing Research Institute for Population and Family Planning Scienceand Technology）

【AbstractObetiveToivesgatetheariagftetalasmiageneinspedonorsinCongqing，Cnabyalyigethalas semi screeningandgene mutation typesofspermdonors inChongqing Human SpermBank（CHSB），andtoprovideareferencefor thalasemiascreeninginspermdonors inChongqing.Methods：Bloodsamples werecolectedfrom488spermdonors inCHSBdoos withalltestsqualifiedduringthequarantine）fromDecember2021toAugust2024.Acompletebloodcountanalysisasperforedto measure the mean corpuscular volume（MCV）and mean corpuscular hemoglobin（MCH）.Polymerase chain reaction（PCR）/agarose gel electrophoresis was used to detect deletional α -thalassemia mutations.PCR and DNA reverse dot blot hybridization were used to detect 3 common non-deletional α -thalassemia mutations and 17 common β -thalassemia mutations.The test results were then analyzed. Results：Amongthe 488 sperm donorsaged 2 5 . 6 4 ± 4 . 9 5 years，15（ 3 . 0 7 % ，allHannationality）tested positive for thalassemia.This carriage rate was lower than that of the thalassemia population in Chongqing （ 9 . 2 4 % ）.Among the 15 thalassemia carriers，13had deletional α -gene mutations（-α3.7 genotype in11 cases[73.33%]， -α4.2 genotype in 1 case[6.67 % ]，and -SEA genotype in1 case I 1），and 2 had non-deletional α -gene mutations （both with the WSM heterozygous mutation）.There was only1 case of abnormal MCV and MCH2 indicators among thalassemia carriers（screening positive rate was 6 . 6 7 % ）.Conclusion：Thalassemia screening inspermdonorsin CHSBrevealsalowthalassemiacariagerate，reflectinggeogaphic（predominantly Sichuanand Chongqingorigins）anddemographic（healthymenofchildbearingpotential）characteristics.Giventhesignificantimpactofthalassmiaonteoffspring conceived through spermdonation，itisrecommendedtoconductthalassemiagenesreeingamong spermdonorsinhuman sperm banks.

【Key words】Chongqing;sperm donor;thalassemia;genotype analysis

人类精子库是以治疗不育症及预防遗传病和提供生殖保险等为目的，利用超低温冷冻技术，采集、检测、保存和提供精子并进行相关研究的公益性机构。（剩余9826字）