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免疫相关疾病背后所隐藏的遗传可能性

对人类遗传学的深入了解以及疾病相关的研究促使人们去搜索遗传可能性和免疫相关疾病之间的关联。目前有大量的证据说明人类主要组织相容性复合体(MHC)及杀伤细胞免疫球蛋白样受体(KIR)与许多免疫相关疾病之间存在关联,这引发了大量资金纷纷投入到各种先进的测序工具和大型队列研究中。然而,尽管付出了这样诸多的努力,但MHC或KIR中致病变异的精细定位仍然很困难,这限制了我们对免疫疾病机制的了解1

复杂的免疫基因在疾病关联研究中的影响

免疫亚基因组区域的原生复杂性也许就是为何将关联变异与免疫疾病相关联一直充满挑战的原因。MHC和KIR基因复合体包含大的拷贝数变异(CNV)、高密度的基因、高度多态性的等位基因,以及有着巨大连锁不平衡(LD)的保守扩展单体型(CEH)。这种复杂性使得人们难以利用下一代测序方法(NGS)来对这些单体型进行从头组装或比对2

了解SMRT测序如何助力您的免疫基因组研究

单分子实时(SMRT)测序带来长读取序列、均匀覆盖和高准确性,有助于全面、确信地对复杂的免疫区域中观察到的完整序列变异进行定相解析。

特色研究:探索复杂免疫位点(如KIR基因)中的遗传变异

Prall-2017-Improved-Discovery of a full-length KIR transcript in Mauritian cynomolgus macaque
科学家利用长读长测序对一种已经过深入研究的食蟹猴群体进行分析,以获得明确的KIR基因型。他们鉴定出9个新的等位基因变异,这有助于Mafa-KIR单体型组织模型的改进(如上图所示)3

深入了解这项研究。

若有意了解如何运用SMRT测序推动您的免疫学研究,请联系我们

 

References

  1. Trowsdale J. and Knight JC., (2013) Major histocompatibility complex genomics and human disease. Annual Review Genomics Human Genetics. 14, 301-323.
  2. Brandt, D. Y. C., et al., (2015) Mapping bias overestimates reference allele frequencies at the HLA genes in the 1000 Genomes Project phase I data. G3 (Bethesda). 5(5), 931-941.
  3. Prall, T. M., et al., (2017) Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics doi:10.1007/s00251-017-0977-7.

Selected Resources