Genes dominant

Tsuchida, K., Jouni, Z. E., Gardetto, J. et al. 2004a. Characterization of the carotenoid-binding protein of the Y-gene dominant mutants of Bombyx mori. J. Insect Physiol., 50(4) 363-372. 

Vascular gene therapy Transfer of dominant-negative receptors or suicide genes under the control of angiogenic endothelial cell specific promoters... 

Mutations in two genes directly lead to a disease. Mutations in the AQPO gene lead to dominantly inherited cataract. Single amino acid substitution in the AQPO gene in both mice and humans result in proteins with impaired trafficking to the plasma membrane and cataract formation, due to loss of the integrity of the lens. 

This type of disease occurs in families and begins unusually at early age (i.e., onset below the age of 60). Approximately 10% of Alzheimer s disease are familial and are inherited in an autosomal dominant manner with high penetrance. Deterministic genes directly cause the disease. Mutations in three different genes encoding for the amyloid precursor protein (APP) and the presenilins 1 and 2 (PS1 and PS2) have been identified to be responsible for early-onset familial Alzheimer s disease. 

Malignant hyperthermia (MH) is an autosomal-dominant pharmacogenetic disorder that is triggered by exposure to inhalation of general anesthetics, such as halothane. In susceptible individuals, these drugs can induce tachycardia, a greatly increased body metabolism, muscle contracture and an elevated body temperature (above 40°C) with a rapid rate of increase. Many cases of MH are linked to a gene for type 1 ryanodine receptor (RyRl). 

Mutations in human Kv-channel genes have been detected that are associated with hereditary diseases ranging from heart arrythmia (long QT-syndrome) and deafness to epilepsy and ataxia (see Table 2). Typically, many Kv-channel related channelopathies are correlated with a mutant phenotype that is episodic in nature and appears as a dominant hereditary trait. 

While it is probably rarer than recessively inherited disease, families with autosomal dominant LGD have been described, and in these families the disease is usually relatively mild. In one large family with dominant disease and the unusual additional feature of dysarthria, a locus has been identified on chromosome 5. The genes responsible for this condition in other families have not yet been localized. 

Transmission is autosomal dominant, and the relevant gene has been mapped to the same locus on chromosome 19q as that associated with susceptibility to malignant hyperthermia (pages 318-319). It is not established that the conditions are allelic. Almost all patients with CCD whose muscle has been tested in vitro for... 

Genetic transmission in nemaline myopathy is the subject of some uncertainty. A Japanese study of 50 pedigrees came to the conclusion that autosomal dominant with reduced penetrance was the most probable mode. However a Finnish study presented evidence for autosomal recessive transmission. There is no evidence that severe and mild forms are genetically distinct and several pedigrees contain members showing widely differing clinical severity. A candidate gene for autosomal dominant nemaline myopathy has been localized to chromosome Iq 21—23. 

A fall in serum is commonly associated with hypokalemic periodic paralysis. Primary hypokalemic paralysis is usually first expressed in children and young adults. Paralytic attacks may fluctuate with remarkable frequency, and there is a common diurnal variation in severity, with weakness especially bad in the morning and evening. The condition has an autosomal dominant pattern of inheritance caused by an abnormality in or close to locus lql3. The gene product is unknown. 

The genetic trait for MH is not sex-linked and both men and women can inherit MH. Inheritance in humans appears to be autosomal dominant with variable penetrance. Studies of large families have documented an autosomal dominant pattern. McPherson and Taylor (1982) studied 93 families in whom MH occurred. Even though various patterns of inheritance did emerge in the study we should assume that 50% of children are at risk in MH susceptible families. Kalow and Britt (1992) suggested that, in some families, at least two different non-allelic genes are likely to be present, one of which is probably autosomal dominant but rare, and the other autosomal recessive but common. 

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