土耳其伊兹密尔流浪猫的 C 型单磷酸胞苷-N-乙酰神经氨酸羟化酶（CMAH）基因的分子特征和血型频率。
Molecular characterization of cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) gene and frequency of blood types in stray cats of İzmir, Turkey.
机构信息
Faculty of Science Department of Biology Molecular Biology Section, Ege University, Bornova, 35040, İzmir, Turkey.
Department of Veterinary Affairs, Municipality of Narlıdere, İzmir, Turkey.
出版信息
BMC Genomics. 2021 Apr 19;22(1):282. doi: 10.1186/s12864-021-07588-0.
BACKGROUND
Cytidine monophospho-n-acetylneuraminic acid hydroxylase (CMAH) gene associated with blood groups in cats encodes CMAH enzyme that converts Neu5Ac to Neu5Gc. Although variations in CMAH gene of pedigree cats have been revealed, the presence/lack of them in non-pedigree stray cats is unknown. Therefore, the present study aimed to investigate the variations in CMAH gene and the quantity of Neu5Ac and Neu5Gc on erythrocytes of non-pedigree stray cats (n:12) living in İzmir, Turkey. Also, the frequency of blood types was determined in 76 stray cats including 12 cats that were used for CMAH and Neu5A/Neu5Gc analysis.
RESULTS
In total, 14 SNPs were detected in 5'UTR as well as in exon 2, 4, 9, 10, 11 and 12 of CMAH gene. Among these SNPs, -495 C > T in 5'UTR was detected for the first time as heterozygous in type A and AB cats, and homozygous and heterozygous in type B cats. The remaining 13 that have been detected in previous studies were also found as homozygous or heterozygous. Both Neu5Gc and Neu5Ac were detected in type A and AB cats. In type B cats, only Neu5Ac was detected. Among two type AB cats, the level of Neu5Ac was found higher in cat carrying heterozygous form (T/C) of 1392T > C. The prevalence of type B cats (67.1 %) was higher than others.
CONCLUSIONS
The presence of a new SNP as well as previous SNPs indicates that more variations can be found in stray cats with a more comprehensive study in the future. Also, the high prevalence of type B cats demonstrates the possible risk of neonatal isoerythrolysis among stray cats living in İzmir, Turkey.
背景
与猫血型相关的胞苷一磷酸-N-乙酰神经氨酸羟化酶（CMAH）基因编码 CMAH 酶，可将 Neu5Ac 转化为 Neu5Gc。尽管已揭示了 pedigree 猫 CMAH 基因的变异，但非 pedigree 流浪猫中它们的存在/缺失情况尚不清楚。因此，本研究旨在调查土耳其伊兹密尔非 pedigree 流浪猫（n=12）红细胞中 CMAH 基因的变异以及 Neu5Ac 和 Neu5Gc 的数量。此外，在包括用于 CMAH 和 Neu5A/Neu5Gc 分析的 12 只猫在内的 76 只流浪猫中确定了血型频率。
结果
总共在 CMAH 基因的 5'UTR 以及外显子 2、4、9、10、11 和 12 中检测到 14 个 SNPs。其中，在 A 型和 AB 型猫中首次检测到 5'UTR 中的-495C>T 为杂合子，在 B 型猫中为纯合子和杂合子。之前研究中检测到的其余 13 个 SNP 也被发现为纯合子或杂合子。在 A 型和 AB 型猫中均检测到 Neu5Gc 和 Neu5Ac。在 B 型猫中，仅检测到 Neu5Ac。在两只 AB 型猫中，携带 1392T>C 杂合形式（T/C）的猫的 Neu5Ac 水平较高。B 型猫的患病率（67.1%）高于其他类型。
结论
新 SNP 的存在以及之前的 SNP 表明，在未来进行更全面的研究时，可以发现更多流浪猫的变异。此外，B 型猫的高患病率表明土耳其伊兹密尔流浪猫中可能存在新生儿同种异体溶血性疾病的风险。
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