full issue - Association of Biotechnology and Pharmacy

Current Trends in Biotechnology and PharmacyVol. 5 (1) 1060-1063 January 2011. ISSN 0973-8916 (Print), 2230-7303 (Online)Factor XI Gene (Plasma thromboplastin antecedent) Deficiencyin Karan Fries CattleM. S. Azad, I. D. Gupta*, Archana Verma, Vikas Bohra, S. Rajesh Kumar andKawardeep KourMolecular Genetics Lab, Dairy Cattle Breeding Division,National Dairy Research Institute, Karnal, Haryana -132001, India*For Correspondence - idgdcb59@yahoo.co.in1060AbstractThe PCR optimization for FXI gene Exon12 was found to be consistent and specific. PCRanalysis of FXI gene Exon 12 revealed single bandof 244 bp in all the KF cattle studied. Nopolymorphism was detected at FXI gene exon 12of Karan Fries cattle. One non synonymousnucleotide change from G to A at position 105 inKaran Fries was observed when compared withBos taurus resulting into a change of amino acidin second codon from Arginine (R) in Bos taurusto Glutamine (Q) in Karan fries. The studyrevealed that the screened Karan Fries cattlewere free from Factor XI gene deficiency. Asthere was no polymorphism at FXI gene exon 12of Karan Fries cattle, it was not feasible to exploreassociation with repeat breeding.Key words:PolymorphismFXI gene, Karan Fries cattle,IntroductionFactor XI or plasma thromboplastinantecedent is the zymogen form of factor XI whichis one of the enzymes of the coagulation cascade.Like many other coagulation factors, it is a serineprotease. In humans, Factor XI is encoded bythe F11 gene. Factor XI (FXI) is produced by theliver and circulates as a homo-dimer in its inactiveform. FXIa along with FVIIIa are responsible forconversion of FX to its activated form FXa whichresults in conversion of prothrombin to thrombin.This reaction makes formation of fibrin clot (8)FXI gene of cattle is 19150 bp in length (17607721- 17626871 nt). It has 15 exons and 14 intronsand is located on BTA 27.Studies done at international levelshowed that FXI gene deficient cattle were highlysusceptibility to infectious diseases, showedincreased frequencies of repeat breeding andlower rate of fetal and calf survival (2, 3, 7). FXIgene deficiency in cattle is caused by 76-bpinsertion of an imperfect poly-adenine (Poly-A)tract occurring at 188 bp position in exon 12[AT(A) 28TAAAG(A) 26GGAAATAATAATTCA].This insertion introduces a stop codon that resultsin a FXI protein lacking the functional proteasedomain encoded by exons 13, 14 and 15 (4, 8).Liptrap et al., (7) found that FXI-deficientCanadian Holstein cattle have 50% greaterprevalence of repeat breeding. FXI genedeficiency has been observed in Holstein cattlein Canadian USA, Polish and British herds. inCanada (2, 7), USA (8), Poland (5), Britain (1),Japan (4), India (11), Turkey (9) and in JapaneseBlack cattle also (6, 10). As very little work hasbeen done on FXI gene deficiency on crossbredcattle in India, so the present study was carriedout to screen cattle of the National DairyFactor XI Gene Deficiency