【摘 要】
：
目的 地中海贫血(简称地贫)是一种由于α和β珠蛋白合成比例失衡所导致的严重的致死性遗传病，是世界上最常见的人类常染色体单基因遗传病之一.根据珠蛋白生成障碍的种类分为α地贫和β地贫两大类.东南亚缺失型(--SEA)是一种常见的α突变，主要分布在东南亚地区的泰国，菲律宾，越南和中国南部部分地区.先前的流行病调查显示，我国南方的广西和广东地区--SEA突变的携带率分别为7.84％和4.14％.方法：本课
【机 构】
：
南方医科大学基础医学院医学遗传教研室,510515 昆明动物研究所遗传资源与进化国家重点实验室,6
【出 处】
：
中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议
论文部分内容阅读
目的 地中海贫血(简称地贫)是一种由于α和β珠蛋白合成比例失衡所导致的严重的致死性遗传病，是世界上最常见的人类常染色体单基因遗传病之一.根据珠蛋白生成障碍的种类分为α地贫和β地贫两大类.东南亚缺失型(--SEA)是一种常见的α突变，主要分布在东南亚地区的泰国，菲律宾，越南和中国南部部分地区.先前的流行病调查显示，我国南方的广西和广东地区--SEA突变的携带率分别为7.84％和4.14％.方法：本课题选取来自中国南方广东广西两个地区的214例个体，其中--SEA携带者76例，正常对照138例.通过对SEA缺失段上下游约410kb范围内的28个单核苷酸多态位点(SNP)使用高分辨率熔解曲线技术在样本中分型得到研究群体的基因组多态数据.通过推断单倍型，连锁不平衡分析，重组分析，长单倍型分析和构建单倍型网络进化图等一系列生物信息学分析对--SEA地贫等位基因的进化历程和各种单倍型之间的进化关系得出一个较为可信的推测.结果 连锁不平衡分析的结果发现--SEA缺失等位基因与周围多态位点的连锁不平衡距离要远高于基因组的平均水平.重组分析和长单倍型检验结果显示连锁不平衡程度和范围的增加是由于--SEA缺失受到正性选择.单倍型网络图结果显示--SEA变异是由单一的，亚洲人特有的单倍型背景产生的.结论 综合以上结果，我们认为--SEA变异是一个近期发生的突变事件，并且受到疟疾的自然选择作用而在东南亚地区呈现高频率分布.本研究在群体遗传学水平上证明了疟疾与α地贫的自然选择关系，并且通过对所研究样本在SEA缺失段上下游区域单倍型的分析得知疟疾是造成SEA缺失变异在所研究样本中现时分布状态的主要原因.
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