Abstract

The present study investigated the occurrence of autosomal recessive genetic disease, factor XI (FXI), in Khuzestan native cows and Iranian Holstein cattle. Genomic DNA was isolated from the blood of the cows (n = 330). Exon 12 of the Factor XI gene of the cows was amplified by polymerase chain reaction (PCR). Additionally, all cows were confirmed by DNA sequencing to determine existence of mutant FXI allele. Normal cattle have only one DNA fragment of 244 bp while heterozygous cattle exhibited two DNA fragments of 320 and 244 bp for the FXI gene deficiency. The results of this study showed that none of the animals were carriers of FXI deficiency. Because of the economical significance of the FXI mutation and its recessive mode of inheritance, attention has to be paid to any case of a bull having in his origin any known FXI carrier. Although we did not observe any carrier, widespread screening programs for detection of genetic disorders seems necessary.

Key words: Factor XI, deficiency, sequencing, cattle, Iran.

Abbreviation

Abbreviations: FXI, Factor XI; APTT, activated partial thromboplastin time; EDTA,ethylenediaminetetraacetic acid; SDS, sodium dodecyl sulfate; PCR, polymerase chain reaction; q, recessive allele.