【摘 要】
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目的 调查3例携带HLA-DRB1*0114新基因的家系遗传状况.方法 HLA低分辨分型采用PCR-SSO流式分型技术,DNA测序采用等位基因特异性技术.结果 新基因HLA-DRB1*0114序列与DRB1*010
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目的 调查3例携带HLA-DRB1*0114新基因的家系遗传状况.方法 HLA低分辨分型采用PCR-SSO流式分型技术,DNA测序采用等位基因特异性技术.结果 新基因HLA-DRB1*0114序列与DRB1*010101相比,第2外显子区域有3个碱基发生突变,造成2个氨基酸发生改变.257位碱基A→C,导致86编码子的氨基酸由天冬氨酸(Asp)变成丙氨酸(Ala).265位碱基T→C,89编码子的氨基酸由酪氨酸(Tyr)变成组氨酸(His).3个携带HLA-DRB1*0114新基因家系均为陕西籍,HLA-DRB1*0114等位基因携带者都有单倍型A*26-B*37-DRB1*0114,该单倍型均由父亲携带,且都遗传给子代的所有成员.结论 A*26-B*37-DRB1*0114是紧密连锁的单倍型,可以稳定遗传.
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