Читать книгу Neurology - Charles H. Clarke - Страница 65

Most recessive traits are rare and typically follow consanguinity.

AR cerebellar ataxias (Chapter 17), neuropathies (Chapter 10), hearing loss (Chapter 15) and progressive external ophthalmoplegia (Chapter 14) are examples.

Individuals who are heterozygous are usually phenotypically normal. However, when a population has a high gene frequency, heterozygote testing can identify high risk individuals and thus assist genetic advice. One example is Tay–Sachs disease.