基础医学与临床 ›› 2016, Vol. 36 ›› Issue (5): 594-597.

• 研究论文 • 上一篇    下一篇

II型CD36缺乏症基因遗传不对称性

丁浩强,徐秀章,王嘉励,叶欣,邓晶,夏文杰,陈扬凯   

  1. 广州血液中心
  • 收稿日期:2015-11-24 修回日期:2016-01-29 出版日期:2016-05-05 发布日期:2016-04-26
  • 通讯作者: 丁浩强 E-mail:dkwalk@163.com
  • 基金资助:
    广州市医学重点学科建设项目;广州市血液安全重点实验室

Genetic asymmetry in Type II CD36 deficiency

  • Received:2015-11-24 Revised:2016-01-29 Online:2016-05-05 Published:2016-04-26

摘要: 目的 用DNA测序的方法确定II型CD36缺乏症基因型,分析该基因在广州献血者中的遗传方式。方法 利用PCR-SBT(sequencing based typing, 基于测序分型)技术对998名广州献血者的CD36基因编码区进行分析;通过流式细胞仪分析血小板及单核细胞表面 CD36蛋白表达水平。结果 在998样品中,野生型基因、1个单一的突变 和 2个突变者分别为980 、12和6 。I型CD36缺失通常以2个突变基因型存在。结论 II 型CD36缺失可能受单核细胞CD36蛋白基因剂量依赖性以及除编码区基因以外的遗传因素的影响,导致其基因遗传不对称性。

关键词: CD36, 血小板, 单核细胞

Abstract: Objective To use DNA sequencing methods to determine the type II CD36 deficiency genotype, and to analyze the genetic of CD36 gene in guangzhou blood donors. Methods Using PCR-SBT technology to analyze 998 blood donors in guangzhou CD36 genetic coding region; To analyze CD36 protein expression level by flow cytometry instrument. Results In 998 subjects, subject to wild type gene, a single mutation and two mutations was 980, 13 and 5 respectively. Type I CD36 deficiency The type I CD36 deficiency is most commonly detected in subjects who are homozygous or compound heterozygous for mutations. Conclusion Monocyte CD36 protein may be influenced by genetic dose dependent; On the other hand, can be affected by genetic factors besides the encoding gene, resulting in genetic asymmetry in type II CD36 deficiency.

Key words: CD36, platelet, Monocyte