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Study of citrullinaemia disorder in Khuzestan Holstein cattle population of Iran

机译:Khuzestan Holstein牛群康斯坦血症症的研究

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The present study investigated the occurrence of autosomal recessive genetic disease,?citrullinaemia, in Khuzestan native cows and Iranian Holstein cattle. Genomic DNA was isolated from the blood of the cows (n = 330). The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was performed to identify carriers of this disease. Then to determine existence of mutant citrullinaemia allele, all cows were confirmed by DNA sequencing. This study showed that none of the cows were carriers or mutants of citrullinaemia deficiency. More attention is necessary to check bulls related to possibility of being citrullinaemia carrier. This is important for economical reason and citrullinaemia mutation and its recessive hereditary disorder. However, no carrier was observed in this study, and for more detection of genetic disorders, it seems that a wide screening program is needed.
机译:本研究调查了常染色体隐性遗传疾病的发生,康斯坦斯坦本土奶牛和伊朗荷斯坦牛的酸碱血症。从奶牛的血液中分离基因组DNA(n = 330)。进行聚合酶链反应限制片段长度多态性(PCR-RFLP)分析以鉴定该疾病的载体。然后确定突变体柑橘蛋白酶血症等位基因的存在,通过DNA测序证实所有奶牛。这项研究表明,没有一种奶牛是柑橘内血症缺乏的载体或突变体。需要更多关注检查与柑橘内血症载体有可能的公牛。这对经济原因和柑橘蛋白血症突变和其隐性遗传性疾病很重要。然而,在本研究中没有观察到载体,并且为了更多地检测遗传紊乱,似乎需要广泛的筛选程序。

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