منابع مشابه
Mutation in KCNQ1 that has both recessive and dominant characteristics.
Inherited forms of long QT syndrome (LQTS) are characterised by an extended QT interval and clinical manifestations that include syncope and sudden death. The known genes in which mutations give rise to LQTS all produce components of cardiac ion channels. The two genes mutated in the majority of cases are KCNQ1 or HERG. The proteins produced from these genes are subunits which form tetrameric t...
متن کاملThe frequency of X ray-induced dominant and recessive lethal mutations in the rat.
P A R T of the genetic damage induced by X rays may be due to mutations which have harmful effects on viability. Such mutations may vary in the seventy of their effects from lethal to mildly detrimental, and in degree of dominance from completely dominant or overdominant to completely recessive. The difficulties of obtaining precise mutation rate estimates for viability mutations in mammals are...
متن کاملHighly variable recessive lethal or nearly lethal mutation rates during germ-line development of male Drosophila melanogaster.
Each cell of higher organism adults is derived from a fertilized egg through a series of divisions, during which mutations can occur. Both the rate and timing of mutations can have profound impacts on both the individual and the population, because mutations that occur at early cell divisions will affect more tissues and are more likely to be transferred to the next generation. Using large-scal...
متن کاملCartilage matrix deficiency (cmd): a new autosomal recessive lethal mutation in the mouse.
A new autosomal recessive lethal mutation in the mouse designated cartilage matrix deficiency (cmd) is described. Homozygotes are dwarfed, and have abnormally short trunk, limbs, tail and snout, as well as a protruding tongue and cleft palate. The abdomen is distended because the foreshortened rib cage and spinal column forces the liver ventrad from its normal location. Histological and electro...
متن کاملRecessive lethal mutations in Anopheles albimanus.
Six recessive lethal mutants of Anopheles albimanus are described. Homozygotes for three of the autosomal mutants, viz., bar eye, dot eye and hairy, die during the last larval or early pupal stages; complete linkage data are lacking for bar eye and hairy but dot eye is tightly linked to red eye on the right arm of chromosome 2. Larval and pupal mortality is high for homozygotes of the other two...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1941
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.27.6.249