A recessive locus at 12q24 is associated with over one-third of cases of patent ductus arteriosus (PDA) in Iran and perhaps worldwide, researchers report in the PNAS Early Edition for the week of October 28th.
“Many human diseases occur sporadically within populations and are commonly assumed to have a small genetic contribution arising from the combined effects of many genes,” Dr. Richard P. Lifton told Reuters Health. “However, it is possible that for some of these diseases there are single recessive genes with large effect but which have reduced penetrance such that only a small proportion of individuals who have inherited the disease mutations actually develop disease,” he explained.
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