Caroli A, Chiatti F, Chessa S, Rignanese D, Ibeagha-Awemu E M, Erhardt G
Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Brescia, Viale Europa 11, 25123 Brescia, Italy.
J Dairy Sci. 2007 Jun;90(6):2989-96. doi: 10.3168/jds.2006-674.
The analysis of casein polymorphisms was carried out in West Africa goat populations: Red Sokoto (n = 57), West African Dwarf Nigeria (n = 27), West African Dwarf Cameroon (n = 39), and Borno (n = 37). The 4 casein genes alpha(s1) (CSN1S1), beta (CSN2), alpha(s2) (CSN1S2), and kappa (CSN3) were typed at the DNA level. No null alleles were found in any of the genes analyzed. A PCR single-strand conformation polymorphism method was implemented for the identification of CSN1S1F allele simultaneously with A/0(1), B/E, N and the new allele. The allele differed from CSN1S1B by a synonymous transversion TCG-->TCT in the codon corresponding to Ser(66) of the mature protein. The new allele, named CSN1S1*B', occurred at a high frequency in all the populations, ranging from 0.295 (West African Dwarf Cameroon) to 0.405 (Borno). A greater frequency was found for alleles associated with high alpha(s1)-casein quantity, as has already been observed in the goat populations from the Mediterranean area. The intermediate E allele occurred only in the Red Sokoto and at a low frequency. The faint F allele occurred in 3 populations at frequencies lower than 0.03. Linkage disequilibrium occurred in all the populations, with highly significant differences in Borno, Red Sokoto, and West Africa Dwarf Nigeria, and significant differences in West Africa Dwarf Cameroon. Only 10 haplotypes showed frequencies > or =0.05 in at least 1 of the 4 populations considered, and the overall frequency was >0.1 only for 4 haplotypes: BAAB, B'ACA, ACAB, and BACA (in the order CSN1S1-CSN2-CSN1S2-CSN3). Haplotype BAAB, postulated as an ancestral haplotype in previous studies, was the most common haplotype in all breeds except Borno, where B'ACA was predominant. The results obtained are of considerable significance given that very little information exists on the subject for African goats. The high frequency of strong alleles in the calcium-sensitive caseins as well as the high linkage disequilibrium found among the casein genes in the African breeds analyzed may suggest that specific casein haplotypes have already been selected due to their advantages for nutrition. Haplotypes providing greater protein and casein content would increase the energy content of milk, thus resulting in more favorable growth and survival of young goats and humans consuming the milk.
红索科托山羊(n = 57)、尼日利亚西非矮山羊(n = 27)、喀麦隆西非矮山羊(n = 39)和博尔诺山羊(n = 37)。在DNA水平上对4个酪蛋白基因α(s1)(CSN1S1)、β(CSN2)、α(s2)(CSN1S2)和κ(CSN3)进行了分型。在所分析的任何基因中均未发现无效等位基因。采用聚合酶链反应单链构象多态性方法同时鉴定CSN1S1F等位基因以及A/0(1)、B/E、N和新等位基因。该等位基因与CSN1S1B的区别在于成熟蛋白Ser(66)对应的密码子发生了同义颠换TCG→TCT。这个新等位基因命名为CSN1S1*B',在所有种群中出现频率都很高,范围从0.295(喀麦隆西非矮山羊)到0.405(博尔诺山羊)。如在地中海地区的山羊种群中已经观察到的那样,与高α(s1)-酪蛋白含量相关的等位基因出现频率更高。中间型E等位基因仅在红索科托山羊中出现且频率较低。微弱的F等位基因在3个种群中出现,频率低于0.03。所有种群中均存在连锁不平衡,在博尔诺山羊、红索科托山羊和尼日利亚西非矮山羊中差异极显著,在喀麦隆西非矮山羊中差异显著。在所考虑的4个种群中,只有10种单倍型在至少1个种群中的频率≥0.05,总体频率>0.1的单倍型只有4种:BAAB、B'ACA、ACAB和BACA(顺序为CSN1S1 - CSN2 - CSN1S2 - CSN3)。在先前的研究中被假定为祖先单倍型的BAAB,在除博尔诺山羊以外的所有品种中都是最常见的单倍型,在博尔诺山羊中B'ACA占主导。鉴于关于非洲山羊这一主题的信息非常少,所获得的结果具有相当重要的意义。在所分析的非洲品种中,钙敏感酪蛋白中强等位基因的高频率以及酪蛋白基因之间发现的高连锁不平衡可能表明,由于其在营养方面的优势,特定的酪蛋白单倍型已经被选择。提供更高蛋白质和酪蛋白含量的单倍型会增加牛奶的能量含量,从而使饮用牛奶的幼山羊和人类有更有利的生长和生存。