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The autosomal recessive genetic disorders are regularly investigated   especially in Indian Holstein and Holstein Crossbred bulls before they   entered in semen collection so that a defective gene should not be   transmitted to future generations. Bovine citrullinaemia first reported in   Australia is a metabolic disorder as one of the enzymes, Argininosuccinate   synthetase (ASS) involved in urea cycle is impaired in function. The mutation   responsible for citrullinemia has been characterized as a single-base   substitution at 256bp (C>T) in coding exon 3 of argininosuccinate synthetase   1 (ASS1) gene, which converts the CGA (arginine) at 86 codon to TGA (stop   codon). A Holstein bull during routine molecular screening was found to be   carrier for Citrullinaemia that was confirmed by sequencing. This is a fresh   case of Citrullinaemia carrier in addition to three cases reported earlier in   India. Partial sequencing of coding exon 3 of a normal Holstein revealed a   new silent polymorphism at 240bp position that does not change amino acid   (Sarine AGC>AGT) at 80 codon within exon 3 of ASS1 gene. The sequence of exon   3 of ASS1 gene in a normal Holstein exhibiting a new polymorphism was   submitted to NCBI with accession No. KF933365. The presence of citrullinaemia   carriers in Indian Holstein, though in very low frequency, emphasizing to   continue the investigation of mutant gene in cattle population

Identification of citrullinaemia carrier and detection of a new silent mutation at 240bp position in ASS1 gene of normal Holstein cattle