Heritable Fragile Site on Chromosome 16: Probable Localization of Haptoglobin Locus in Man

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Science  02 Oct 1970:
Vol. 170, Issue 3953, pp. 85-87
DOI: 10.1126/science.170.3953.85


We have found recurrent chromosome breaks at a site (the "fragile site") on the long arm of chromosome 16. This site segregates in simple Mendelian dominant fashion in a large family. The distal portion of the chromosome sometimes shows selective endoreduplication. Preliminary linkage results reveal only 3 recombinants in 33 opportunities for recombination between the fragile site and the alpha locus of haptoglobin, an indication that the α-Hp gene is located near this region on chromosome 16.

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