Heterozygous individuals

The genetic constitution of an organism, which it has inherited from its parents. The genotype refers to the particular combination of alleles at specified loci present in an organism homozygous individuals have identical alleles and heterozygous individuals have different alleles. 

This is a dominant genetic disease affecting 1/500 (heterozygous) individuals in the United States. It is characterized by elevated LDL cholesterol and increased risk for atherosclerosis and coronary artery disease. Cholesterol deposits may be seen as ... 

Heterozygous individuals usually have intermediate enzyme activity, especially in families with a profound deficiency, with some overlap with the normal range. Thus, biotinidase activity with 0.15 mM substrate was within the normal range in 6 (5%) out of 117 parents from families with a profound deficiency, and in 15 (20%) out of 75 parents from families with a partial deficiency. 

Formation of a hemostatic plug or a red thrombosis (fibrin and entrapped red blood cells) at a site at which there is no injury produces occlusion. Death to the surrounding tissues can occur (infarction), or pieces of the thrombus may be tom away and moved to the lungs, producing pulmonary embolism. Such dysfunction of the hemostatic system is generally not attributable to a single cause. For example, heterozygous individuals with half of the normal amount of protein C do not necessarily present with... 

Wilson s disease is an autosomal recessive disease of copper metabolism. It has a prevalence of 1 in 30,000 live births in most populations. The disease has a highly variable clinical presentation. It is characterized by impairment of biliary copper excretion, decreased incorporation of copper into ceruloplasmin, and accumulation of copper in the liver and, eventually, in the brain and other tissues. The biochemical findings include low serum ceruloplasmin, high urinary copper excretion, and high hepatic copper content. Some patients have normal serum cerulo-plasmia levels, and heterozygous individuals do not consistently show reduced levels of this protein. 

Patients with FH have elevated levels of plasma cholesterol because they have missing or defective LDL receptors. (Recall that LDL transport cholesterol to tissues.) Heterozygous individuals (also referred to as heterozygotes) inherit one defective LDL receptor gene. Consequently, they possess half the... 

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