摘要
目的利用PacBio长读长测序技术分析Duffy血型基因在河南回族人群中的遗传多样性。方法随机选取30例上三代均为河南回族的个体作为研究对象, 利用PacBio长读长测序技术检测其Duffy血型基因的全长序列, 测定预测表型和基因型频率的分布, 分析Duffy血型相关单体型与变异位点之间的连锁关系, 并评估基因遗传多样性、自然选择压力及群体遗传学特征。本研究通过了郑州大学第二附属医院医学伦理委员会的审查(批准号:2022223)。结果受检个体Duffy血型表型预测以Fy(a+b-)为主。共鉴定出3个新的FY*01等位基因相关的单核苷酸多态性(SNP)位点, 总频率为13.33%, 其中以FY*01.NEW^(1)(c.199C>T)最为常见。共发现32个变异位点, 其中28个位于内含子区, 遗传多样性主要集中在内含子区。Duffy血型基因受到负向选择压力(d_(N)/d_(S) < 1, Tajima′sD、Fu and Li′sD^(*)&F^(*)偏离0), 整体较为保守。河南回族Duffy血型的等位基因频率与新疆回族、新疆哈萨克族、内蒙古蒙古族、山西运城汉族相近, 而与大多数地区的汉族和其他民族存在显著差异(P<0.05)。结论本研究分析了河南回族人群Duffy基因的遗传学特征, 并证实PacBio长读长测序技术在单体型解析、遗传多样性研究及新变异点鉴定方面具有显著的优势。
Objective To analyze the diversity of Duffy blood group gene among ethnic Hui population from Henan Province using PacBio long-read sequencing technique.Methods Randomly select 30 individuals with three generations of Hui ancestry from Henan as the study subjects.Full-length sequences of the Duffy blood group gene were obtained through PacBio long-read sequencing.Distribution of the predicted phenotype and genotype frequency were determined,and the linkage between Duffy haplotypes and variation sites was analyzed.Genetic diversity,natural selection pressure,and population genetic characteristics were evaluated.This study was approved by the Medical Ethics Committee of the Second Affiliated Hospital of Zhengzhou University(Ethics No.202223).Results The predicted Duffy blood group phenotype in the Henan Hui population was predominantly Fy(a+b-).Three novel SNPs in the FY*01 allele were identified,with a total frequency of 13.33%,among which FY*01.NEW1(c.199C>T)was the most common.A total of 32 variant sites were identified,with 28 located in intronic regions,indicating that genetic diversity was primarily concentrated in introns.The Duffy blood group gene was under negative selection pressure(d_(N)/d_(s)<l,Tajima's D,Fu and Li's D^(*)&F^(*)significantly deviated from O),suggesting overall conservation.The allele frequencies of Duffy blood group in the Henan Hui population was similar to that of the Xinjiang Hui,Xinjiang Kazakh,Inner Mongolia Mongolian,and Yuncheng Han populations,but significantly different from those of most Han and other ethnic groups(P<o.05).ConclusionThis study revealed the characteristics of the Duffy blood group gene among the Henan Hui population and demonstrated the significant advantages of PacBio long-read sequencing technique in haplotype analysis,genetic diversity study,and novel mutation identification.
作者
崔文燕
杨贺才
孔存权
孔永奎
游云飞
刘毓璟
刘金华
陈茂才
张玉林
Cui Wenyan;Yang Hecai;Kong Cunquan;Kong Yongkui;You Yunfei;Liu Yujing;Liu Jinhua;Chen Maocai;Zhang Yulin(Department of Transfusion,The Second Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450014,China;Henan Province Red Cross Blood Center,Zhengzhou 450004,China;Department of Transfusion,Henan Provincial People's Hospital,Zhengzhou,Henan 450003,China;^Department of Transfusion,The First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450002,China;'Henan Xinglong Biotechnology Co.,Ltd.,Xinziang,Henan 453000,China;Xi'an Haorui Gene Technology Co.,Ltd.,Xi'an,Shaanri 710000,China)
出处
《中华医学遗传学杂志》
2025年第3期274-281,共8页
Chinese Journal of Medical Genetics
基金
河南省医学科技攻关计划项目-联合共建项目(LHGJ20220485)。
