Pepe G, Muglia M, Brancati C, Modiano G
Dipartimento di Biologia, Università di Roma Tor Vergata, Italia.
Hum Hered. 1990;40(6):368-80. doi: 10.1159/000153961.
Type I collagen, the most abundant of the collagen protein family, is encoded by two genes, COL1A1 and COL1A2. Two random population samples, one from central Italy and one from southern Italy, were studied for 1 restriction fragment length polymorphism (RFLP) of COL1A1 (RsaI) and 3 RFLPs of COL1A2 (EcoRI, RsaI and MspI). A considerable heterogeneity for COL1A1/RsaI was found not only between Italians and English but even among Italians. The potential usefulness of these RFLPs and haplotypes as anthropogenetic markers, particularly in distinguishing Caucasoids from Negroids, has been discussed.
I型胶原蛋白是胶原蛋白家族中含量最丰富的,由两个基因COL1A1和COL1A2编码。对来自意大利中部和南部的两个随机人群样本进行了研究,检测COL1A1的1种限制性片段长度多态性(RFLP,RsaI)以及COL1A2的3种RFLP(EcoRI、RsaI和MspI)。结果发现,不仅意大利人和英国人之间,甚至在意大利人内部,COL1A1/RsaI都存在相当大的异质性。讨论了这些RFLP和单倍型作为人类遗传学标记的潜在用途,特别是在区分高加索人种和黑人种方面。