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目的研究中国汉族健康人群CYP24A1基因多态性及其单倍型的分布。方法用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF-MS)对203例无直接血缘关系的中国汉族健康受试者进行CYP24A1基因多态性检测,并使用Phase 2.1软件分析单倍型的分布频率。结果 rs1570669、rs34043203、rs3787557、rs6068816在中国汉族健康人群的分布频率分别为36.0%,16.3%,24.4%,31.5%,GCTT、GCTC、GCCC、ATTC单倍型的分布频率分别为27.7%,17.2%,14.3%,12.5%。结论 rs1570669、rs34043203、rs3787557、rs6068816在中国汉族健康人群中的分布频率较高,GCTT单倍型分布频率最高。
Objective To study the CYP24A1 gene polymorphism and its haplotype distribution in Chinese Han healthy population. Methods CYP24A1 gene polymorphism was detected in 203 Han Chinese healthy subjects without direct blood relationship using matrix-assisted laser desorption / ionization time of flight mass spectrometry (MALDI-TOF-MS), and the haplotype Distribution frequency. Results The frequencies of rs1570669, rs34043203, rs3787557 and rs6068816 were 36.0%, 16.3%, 24.4% and 31.5% respectively in Han nationality in China. The distribution frequency of GCTT, GCTC, GCCC and ATTC haplotype were 27.7% and 17.2% , 14.3%, 12.5%. Conclusion rs1570669, rs34043203, rs3787557 and rs6068816 are more frequently distributed in healthy Chinese Han population, with the highest frequency of GCTT haplotype distribution.