Ahti H, Palotie A, Peltonen L, Ramirez F
Hum Genet. 1987 Jan;75(1):79-80. doi: 10.1007/BF00273846.
The pro alpha 2(I) collagen gene has been screened for Bgl II restriction fragment length polymorphisms (RFLPs) in the Finnish population which has a long background of genetic isolation. As genetically isolated populations tend to demonstrate deviations in the degree of heterozygosity, the RFLP markers described in more heterogeneous populations can not be utilized as such in the former. This proved to be the case with Bgl II polymorphism within the pro alpha 2(I) collagen gene, the gene involved in different disorders of connective tissue. This report describes the presence of three new RFLP-loci and the absence of one RFLP-locus, which had been earlier reported from a population with a genetic background remote from the population studied here.
在具有长期遗传隔离背景的芬兰人群中,对原α2(I)型胶原蛋白基因进行了Bgl II限制性片段长度多态性(RFLP)筛查。由于遗传隔离人群往往在杂合度程度上表现出偏差,在更多样化人群中描述的RFLP标记不能直接用于前者。原α2(I)型胶原蛋白基因内的Bgl II多态性就是这种情况,该基因与结缔组织的不同疾病有关。本报告描述了三个新的RFLP位点的存在以及一个RFLP位点的缺失,后者是先前在一个遗传背景与本研究人群不同的人群中报道的。