Aberdein D, Munday J S, Dittmer K E, Heathcott R W, Lyons L A
a Institute of Veterinary, Animal, and Biomedical Sciences , Massey University , Private Bag 11 222, Palmerston North , New Zealand.
b Department of Veterinary Medicine and Surgery, College of Veterinary Medicine , 1600 E. Rollins St., University of Missouri - Columbia , Columbia , MO , USA.
N Z Vet J. 2017 Nov;65(6):327-331. doi: 10.1080/00480169.2017.1367731. Epub 2017 Aug 30.
AIMS To determine the frequency of the FAS-ligand gene (FASLG) variant associated with feline autoimmune lymphoproliferative syndrome (FALPS) and the proportion of carriers of the variant in three British shorthair (BSH) breeding catteries in New Zealand. METHODS Buccal swabs were collected from all cats in two BSH breeding catteries from the South Island and one from the North Island of New Zealand. DNA was extracted and was tested for the presence of the FASLG variant using PCR. Cats with the FASLG variant were identified and the frequency of the FASLG variant allele calculated. Pedigree analysis was performed and inbreeding coefficients were calculated for cats with the FASLG variant. RESULTS Of 32 BSH cats successfully tested for the presence of the FASLG variant, one kitten (3%) was homozygous (FALPS-affected), and seven (22%) cats were heterozygous (carriers) for the FASLG variant allele, and 24 (75%) cats were homozygous for the wild type allele. The overall frequency of the FASLG variant allele in these 32 cats was 0.14. Cats carrying the FASLG variant were from all three breeding catteries sampled, including two catteries that had not previously reported cases of FALPS. Pedigree analysis revealed common ancestry of FALPS-affected and carrier cats within six generations, as well as frequent inbreeding, with inbreeding coefficients >0.12 for five cats with the FASLG variant. CONCLUSIONS AND CLINICAL RELEVANCE There was a high frequency of the FASLG variant allele (0.14) in this small sample of BSH cats, with 22% of healthy cats identified as carriers of the FASLG variant. For an inherited disease, lethal at a young age, in a small population in which inbreeding is common, these results are significant. To prevent future cases of disease and stop further spread of the FASLG variant allele within the BSH population in New Zealand, it is recommended that all BSH and BSH-cross cats be tested for the presence of the FASLG variant before mating. Cats identified as carriers of the variant allele should be desexed and not used for breeding. Results support the need for further investigations of the true frequency of the FASLG variant allele and occurrence of FALPS in the wider population of BSH cats in New Zealand.
目的 确定与猫自身免疫性淋巴细胞增生综合征（FALPS）相关的FAS配体基因（FASLG）变体的频率，以及新西兰三个英国短毛猫（BSH）繁育猫舍中该变体携带者的比例。方法 从新西兰南岛的两个BSH繁育猫舍和北岛的一个繁育猫舍的所有猫身上采集颊拭子。提取DNA并使用PCR检测FASLG变体的存在。鉴定出携带FASLG变体的猫，并计算FASLG变体等位基因的频率。进行系谱分析，并计算携带FASLG变体的猫的近亲繁殖系数。结果 在成功检测FASLG变体存在的32只BSH猫中，1只小猫（3%）为纯合子（受FALPS影响），7只猫（22%）为FASLG变体等位基因的杂合子（携带者），24只猫（75%）为野生型等位基因的纯合子。这32只猫中FASLG变体等位基因的总体频率为0.14。携带FASLG变体的猫来自所有三个采样的繁育猫舍，包括两个此前未报告FALPS病例的猫舍。系谱分析显示，受FALPS影响的猫和携带者在六代内有共同祖先，且近亲繁殖频繁，5只携带FASLG变体的猫的近亲繁殖系数>0.12。结论及临床意义 在这个小样本的BSH猫中，FASLG变体等位基因的频率较高（0.14），22%的健康猫被鉴定为FASLG变体的携带者。对于一种在幼年致死、近亲繁殖常见的小群体中的遗传性疾病，这些结果具有重要意义。为防止未来出现疾病病例并阻止FASLG变体等位基因在新西兰BSH猫群体中进一步传播，建议所有BSH猫和BSH杂交猫在配种前检测是否存在FASLG变体。被鉴定为变体等位基因携带者的猫应绝育，不得用于繁殖。结果支持对新西兰更广泛的BSH猫群体中FASLG变体等位基因的真实频率和FALPS的发生情况进行进一步调查的必要性。
