Genetic Causes of Human Reproductive Disease

PERSPECTIVE Genetic Causes of Human Reproductive Disease

Disorders of reproduction represent a significant social, medical, and economic burden for individuals and society. Approximately 1 in 10 couples in the United States are infertile, and each partner is equally likely to be affected (1). Although many causes of infertility can now be determined in both men and women, most couples still receive a diagnosis of idiopathic infertility. A subset of t...

Reproductive compensation and human genetic disease.

The effects of reproductive compensation on the population genetics of sex-linked recessive lethal mutations are investigated. Simple equations are presented which describe these effects, and so complement existing population genetic theory. More importantly, this type of mutation is responsible for several severe human genetic diseases such as Duchenne muscular dystrophy. It is argued that th...

Premature Ovarian Failure: A Critical Condition in The Reproductive Potential with Various Genetic Causes

Genetic causes of human heart failure.

Factors that render patients with cardiovascular disease at high risk for heart failure remain incompletely defined. Recent insights into molecular genetic causes of myocardial diseases have highlighted the importance of single-gene defects in the pathogenesis of heart failure. Through analyses of the mechanisms by which a mutation selectively perturbs one component of cardiac physiology and tr...

Human male infertility and its genetic causes

Background Infertility affects about 15% of couples who wish to have children and half of these cases are associated with male factors. Genetic causes of azoospermia include chromosomal abnormalities, Y chromosome microdeletions, and specific mutations/deletions of several Y chromosome genes. Many researchers have analyzed genes in the AZF region on the Y chromosome; however, in 2003 the SYCP3 ...