Lack of carriers of citrullinaemia and DUMPS in Indian Holstein cattle

Abstract

The present study investigated the occurrence of 2 autosomal recessive genetic diseases, bovine citrullinaemia and deficiency of uridine monophosphate synthase (DUMPS), in Indian Holstein cattle. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was performed on a group of 642 animals, mainly HF and HF crossbred cattle, to identify carriers of these diseases. None of the animals were carriers of citrullinaemia or DUMPS. It is possible that with the mounting selection pressure, the international gene pool may diminish, and consequently the risk of dissemination of inherited defects will increase. It is therefore recommended to screen breeding bulls for their breed-specific genetic diseases before they are inducted in artificial insemination programmes, to minimize the risk.

Factor XI deficiency in Indian Bos taurus, Bos indicus, Bos taurus x Bos indicus crossbreds and Bubalus bubalis

“…At 0.6% the frequency of FXI-deficiency carriers in the Holstein-Friesian population observed in our study is half that of the 1.2% reported in the Holstein sire population of the USA (Marron et al, 2004). The mutant gene for factor XI deficiency in Indian Holstein-Friesian cattle was higher than citrullinaemia (Murleedharan et al, 1999;Patel et al, 2006) and very much lower than BLAD (Patel et al, 2007), other autosomal recessive genetic diseases observed in Indian Holstein population. Because of the paucity of literature regarding the molecular diagnosis of FXI-deficiency, it is difficult to compare the carrierfrequency in the Indian Holstein-Friesian population to that found in other countries.…”

Implication of complex vertebral malformation and deficiency of uridine monophosphate synthase on molecular-based testing in the Iranian Holstein bulls population

“…Occurrence of mutation in the UMPS gene was reported in Argentina (Poli et al, 1996), Hungary (Fesus et al, 1999) and Taiwan (Lin et al, 2001). Against these reports, there was no carrier of DUMPS in Holstein and native cattles of Turkey (Akyuz et al, 2008), Polish Holstein breed (Kaminski et al, 2005) and Holstein Friesian (HF) and HF crossbred cattle in India (Patel et al, 2006). The complex vertebral malformation (CVM) is a hereditary lethal syndrome in Holstein calves and is characterized by misshapen vertebrae in the cervical, thoracic and lumbar regions of the vertebral column, anomaly of sternum (Nagahata et al, 2002), abnormality of ribs (Revell et al, 2001), low body weight and lateral rotation of the fetlock joints (Duncan et al, 2001).…”

“…J. Biotechnol. (Kaminski et al, 2005;Patel et al, 2006). Occurrence of mutation in the UMPS gene was reported in Argentina (Poli et al, 1996), Hungary (Fesus et al, 1999) and Taiwan (Lin et al, 2001).…”

“…This enzyme actually has two enzymatic functions: orotic phosphoribosyl transferase (OPRTase) and orotidine monophosphate decarboxylase (OMPDCase), corres-ponding to the last two steps in pyrimidine synthesis (Patel et al, 2006). The mutation (C→T) in a gene for UMPS at codon 405 from exon 5 (Patel et al, 2006) of bovine chromosome 1 (Harlizius et al, 1996) leads to a premature stop codon, which subsequently produces a functionally impaired enzyme (Schwenger et al, 1993). Carriers are phenoltypically normal, but have only half the normal activity of uridine monophosphate synthase.…”

“…Because Holstein semen is extensively used for crossbreeding programs with indigenous cattle, it has become necessary to screen all crossbred animals, especially artificial insemination (AI) bulls, to minimize the risk of spreading genetic diseases (Patel et al, 2006). Thus, the objective of the present study is to identify the carrier of DUMPS and CVM from Abbas Abad Animal Breeding Centers and Ferdowsi Univesity of Mashhad Dairy Farm in Khorasan state of Iran.…”