A Novel Variant in CMAH Is Associated with Blood Type AB in Ragdoll Cats.
A Novel Variant in CMAH Is Associated with Blood Type AB in Ragdoll Cats.
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DOI：
10.1371/journal.pone.0154973
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发表时间：
2016
期刊：
影响因子：
3.7
通讯作者：
Helps CR
中科院分区：
文献类型：
--
作者：
Gandolfi B;Grahn RA;Gustafson NA;Proverbio D;Spada E;Adhikari B;Cheng J;Andrews G;Lyons LA;Helps CR
胞苷单磷酸-N-乙酰神经氨酸羟化酶与猫红细胞上唾液酸的产生有关。猫有一个主要的血型，有三种血清型;最常见的血型A是占主导地位的B型。第三种罕见的血型被称为AB型，其遗传方式尚不清楚。定义了猫血型抗原，其中N-羟乙酰神经氨酸与A型相关，N-乙酰神经氨酸与B型相关。AB型血的血清学特征是使用针对A和B表位的分型试剂进行凝集。虽然B型血的遗传特性已经实现，罕见的AB型血清型仍然遗传特性不明。在布娃娃猫（22例和15例对照）中进行的全基因组关联研究检测到AB血型与猫染色体B2上的SNP之间存在显著关联，最高度相关的SNP位于候选基因胞苷单磷酸-N-乙酰神经氨酸羟化酶附近的4，487，432位。发现了一种新的变异体c.364C>T，它与布娃娃猫的AB型血型高度相关，在较小程度上与随机繁殖的猫的AB型血型高度相关。新发现的变异可能与布娃娃猫的AB型血型有关，并且与红细胞膜上两种抗原（N-羟乙酰神经氨酸和N-乙酰神经氨酸）的表达有关。这项工作没有发现的其他变体可能与其他品种的猫的AB型血有关。
The enzyme cytidine monophospho-N-acetylneuraminic acid hydroxylase is associated with the production of sialic acids on cat red blood cells. The cat has one major blood group with three serotypes; the most common blood type A being dominant to type B. A third rare blood type is known as AB and has an unclear mode of inheritance. Cat blood type antigens are defined, with N-glycolylneuraminic acid being associated with type A and N-acetylneuraminic acid with type B. Blood type AB is serologically characterized by agglutination using typing reagents directed against both A and B epitopes. While a genetic characterization of blood type B has been achieved, the rare type AB serotype remains genetically uncharacterized. A genome-wide association study in Ragdoll cats (22 cases and 15 controls) detected a significant association between blood type AB and SNPs on cat chromosome B2, with the most highly associated SNP being at position 4,487,432 near the candidate gene cytidine monophospho-N-acetylneuraminic acid hydroxylase. A novel variant, c.364C>T, was identified that is highly associated with blood type AB in Ragdoll cats and, to a lesser degree, with type AB in random bred cats. The newly identified variant is probably linked with blood type AB in Ragdoll cats, and is associated with the expression of both antigens (N-glycolylneuraminic acid and N-acetylneuraminic acid) on the red blood cell membrane. Other variants, not identified by this work, are likely to be associated with blood type AB in other breeds of cat.