E.N. Konovalova, O.V. Kostiunina, O.S. Romanenkova
Federal Scientific Center for Animal Husbandry named after Academy Member L.K. Ernst, pos. Dubrovitsy, 60, Podol’skii r-n, Moskovskaya obl., 142132, Russian Federation
Abstract. Arthrogryposis multiplex (AM) is one of the lethal genetic defects causing serious economic damage to beef cattle breeding. It is a congenital hereditary disease of cattle, which is characteristic for dairy and beef breeds. The cause of the disease in Aberdeen-Angus breed is an extensive deletion (23,347 bp) of ISG15, HES4 and AGRN genes. The aim of our investigations was to develop a molecular genetic test system for the diagnostics of the mutation of these genes based on the multiplex single tube allele-specific PCR method (STAS-PCR). The material for the study were DNA samples of calves, steers, heifers, cows and bulls from five population of purebred Aberdeen Angus (n = 1205): I (n = 282), II (n = 101), III (n = 731), IV (n = 60), V (n = 31) and one mixed population (hybrid of Kalmyk and Aberdeen Angus breeds) VI (n = 37), belonging to the farms of Leningrad (I, IV), Kaluga (V), Smolensk (VI), Bryansk (III) and Voronezh (II) regions. The mutation screening carried out by the developed test system allowed to identify animals-carriers of the mutant allele in one population of cows (II) with a frequency of 0.99% and in two populations of bulls (I and III) with frequencies of 1.06 and 0.94%, respectively. A review of the data of foreign breed associations for 2017 showed that the frequency of occurrence of AMC animals remains high enough (20.7–29.2% in cows and 1.2–10.7% in bulls) and tends to increase – according to the American Association of Aberdeen-Angus breed over the past year, this figure increased in cows by 5.2%, and in bulls by 1.2%. These facts indicate the existence of a risk of arthrogryposis multiplex spread in Russia. The developed test system allows early detection of AM-carriers, which will contribute to the prevention of the spread of this defect.
Keywords: cattle, genetic defect, arthrogryposis multiplex, AM, Aberdeen-Angus breed.
Author Details: E.N. Konovalova, Cand. Sc. (Biol.), senior research fellow (e-mail: Этот адрес электронной почты защищён от спам-ботов. У вас должен быть включен JavaScript для просмотра.); O.V. Kostiunina, D. Sc. (Biol.), head of laboratory; O.S. Romanenkova, Cand. Sc. (Biol.), research fellow.
For citation: Konovalova E.N., Kostiunina O.V., Romanenkova O.S. Genetic Defect of Arthrogryposis Multiplex and Its DNA-Diagnostics in Aberdeen-Angus Cattle. Dostizheniya nauki i tekhniki APK. 2018. Vol. 32. No. 2. Pp. 58-61 (in Russ.). DOI: 10.24411/0235-2451-2018-10215.