Restriction Fragment Length Polymorphism Study of the Apolipoprotein B-100 Gene from a Nuclear Family Possessing Abetalipoproteinemia
Danan, Alan Dante
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The possibility of linkage between the apolipoprotein B-100 gene and the rare, inherited, lipid disease abetalipoproteinemia was studied using restriction fragment length polymorphism techniques. A nuclear family with abetalipoproteinemia as well as three unrelated normals were studied. Four of the six offspring in the nuclear family were diagnosed abetalipoproteinemics. The parents, as well as two of the offspring, were unaffected by the disease. The restriction enzymes used were Eco Rl, Bam Hl, Taq 1 and Xba 1. After the digestion of the total DNA from the subjects was complete, the fragments were separated through agarose gel electrophoresis. The fragments were then transferred onto a filter membrane and hybridized with a radioactive probe specific to the apolipoprotein B-100 gene. The filter membranes were autoradiographed and analyzed for possible fragment length polymorphisms. A restriction fragment length polymorphism linked to the apoliporotein B-I00 gene fragments of the parents would establish definite linkage between abetalipoproteinemia and the apolipoprotein B-I00 gene. The apolipoprotein B-I00 gene showed no polymorphisms among the DNA fragments of the nuclear family.