familial disease

A familial disease is hereditary, passed on from one generation to the next. It resides in a genetic mutation that is transmitted by mother or father (or both) through the gametes to their offspring. Not all genetic disorders are familial, however, because the mutation may arise…

Rare, indeed, is the family that is entirely free of any known genetic disorder. Many thousands of different genetic disorders with defined clinical symptoms have been identified. Of the 3 to 6 percent of newborns with a recognized birth defect, at least half involve a predominantly genetic contribution. Furthermore,…

…cancers are now recognized as familial, and some are actually inherited in an apparently autosomal dominant manner. Cancer may therefore be considered a multifactorial disease, resulting from the combined influence of many genetic factors acting in concert with environmental insults (e.g., ultraviolet radiation, cigarette smoke, and viruses).

Although it is difficult to define precisely which genetic traits determine susceptibility, a number of types of cancer are linked to a single mutant gene inherited from either parent. In each case a specific tissue organ is characteristically affected. Those types of cancer…

…shown to result from the inheritance of an abnormal gene that produces a localized disturbance of a growth process in the embryo. In the rabbit a recessive gene for brachydactyly (short digits) causes a localized breakdown of circulation in the developing limb bud of the embryo, followed by necrosis (tissue…