Novel identification of Factor XI deficiency in Indian Sahiwal (Bos indicus) cattle

Abstract

Factor-XI deficiency (FXID) is inherited as autosomal lethal recessive disorder of carrier Holstein-Friesian bulls. A 76 base pair segment insertion into exon 12 in Factor-XI gene causes FXID in cattle. Keeping this in view the present study was conducted to screen breeding bulls of both indigenous and exotic breeds for mutation in Factor-XI gene and to find out the frequency of FXID carrier animals in breeding bulls. A total of 120 bulls of different age group maintained at Frozen Semen Bull Station, India were randomly selected from different cattle breeds to screen presence of FXID syndrome in breeding sires. Genomic DNA was isolated from blood of the selected bulls. PCR parameters were standardized to obtain 244 and 320 bp amplicons. The results showed that 2 Sahiwal bulls out of 120 animals were carrier for FXID. Amplicons of the carrier animals were sequenced and annoted, which confirms a 76 bp insertion in the exon 12. Bleeding and clotting time showed considerable discrepancy in the carrier animals as compared to the normal animals. The findings of relative mRNA expression of Factor XI transcript revealed identical tendency in the carrier. The frequency of carrier animals and mutant allele was 2.5 % and 0.025 respectively. This study recommends for screening of breeding at AI bull centers in the country for FXID. The study also stands a merit for identification of FXID carrier in Bos indicus for the first time.

Detection of allele and genotype frequencies of bovine leukocyte adhesion deficiency, factor XI deficiency and complex vertebral malformation disease genes in Holstein cattle

“…Previously, carriers of FXID have been identified in Turkish Holstein cattle (5,15). The frequency of mutant FXID allele was estimated to be 1.69% (5) and 0.4% (15), similar to that the frequency reported by Mondal et al 1.69% (22). Similarly, the percentage of carrier cattle was found to be 0.67% (31) and 1.8% (16).…”

Identification of heterozygous cases of Bovine leukocyte adhesion deficiency (BLAD) in Indian Holstein crossbred bulls

“…As reported earlier [5], no cattle and buffalo breeds were found heterozygous for BLAD other than HF crossbreds in a present investigation. However, Factor XI deficiency, one of the autosomal genetic disorders was first time reported in zebu cattle, Sahiwal breed [13] indicating the possible occurrence of the genetic disorders in the Zebu cattle. The bulls found carrier/heterozygous for BLAD in the present investigation, were advised to be culled from bull rearing centre to avoid further propagation of the defective gene.…”

Genetic Screening of Deficiency of Uridine Monophosphate Synthase (Dumps), Bovine Citrullinaemia (BC) and Factor Xi Deficiency (Fxid) in Hardhenu, Sahiwal and Hariana Bulls

“…Affected cows frequently have pink-colored colostrum. (Jorgensen et al, 1993;Mondal et al, 2016). In addition, animals are predisposed to mastitis, mertitis and pneumonia (Gentry et al, 1996).…”