Mietus-Snyder M, Charmley P, Korf B, Ladias J A, Gatti R A, Karathanasis S K
Department of Cardiology, Children's Hospital, Boston, Massachusetts.
Genomics. 1990 Aug;7(4):633-7. doi: 10.1016/0888-7543(90)90211-c.
The genes encoding apolipoproteins AI, CIII, and AIV, three plasma proteins involved in lipid metabolism, are clustered within a 15-kb DNA segment (apoAI-CIII-AIV gene cluster) located on human chromosome 11 at band q23. The gene encoding the neural cell adhesion molecule (NCAM), a cell surface glycoprotein involved in cell-cell recognition during morphogenesis, is also located on chromosome 11, band q23. In this report, 12 previously described restriction fragment length polymorphisms (RFLPs) in the apoAI-CIII-AIV gene cluster were tested for cosegregation with a newly identified BamHI RFLP in the NCAM gene using 13 families. The results show that the apoAI-CIII-AIV gene cluster and the NCAM gene loci are linked with a maximum lod score of 15.9 at a recombination fraction of 0.028. In addition, an approach for the most efficient use of the apoAI-CIII-AIV gene cluster polymorphisms, based on the evaluation of their individual and cumulative heterozygosities, is presented.
编码载脂蛋白AI、CIII和AIV(三种参与脂质代谢的血浆蛋白)的基因,聚集在位于人类11号染色体q23带的一个15kb的DNA片段(载脂蛋白AI-CIII-AIV基因簇)内。编码神经细胞黏附分子(NCAM)的基因,一种在形态发生过程中参与细胞间识别的细胞表面糖蛋白,也位于11号染色体q23带。在本报告中,使用13个家系,对载脂蛋白AI-CIII-AIV基因簇中12个先前描述的限制性片段长度多态性(RFLP)与NCAM基因中新鉴定的BamHI RFLP进行共分离测试。结果表明,载脂蛋白AI-CIII-AIV基因簇和NCAM基因座是连锁的,在重组率为0.028时,最大lod分数为15.9。此外,还提出了一种基于对载脂蛋白AI-CIII-AIV基因簇多态性个体和累积杂合性评估的最有效利用这些多态性的方法。